nsv884224
- Organism: Homo sapiens
- Study:nstd71 (Xu et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,260
- Publication(s):Xu et al. 2011
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1326 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 923 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 421 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 1326 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 923 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 666 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 864 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv884224 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 31,310,211 | 31,312,324 | 31,317,515 | 31,318,470 |
| nsv884224 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 2,612,428 | 2,612,428 | 2,620,660 | 2,620,660 |
| nsv884224 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 2,619,194 | 2,619,194 | 2,625,775 | - |
| nsv884224 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 31,277,988 | 31,280,101 | 31,285,292 | 31,286,247 |
| nsv884224 | Remapped | Good | GRCh37.p13 | ALT_REF_LOCI_7 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 2,611,726 | 2,611,726 | 2,619,958 | 2,619,958 |
| nsv884224 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_4 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 2,624,814 | 2,624,814 | 2,631,393 | - |
| nsv884224 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 31,385,967 | 31,388,080 | 31,393,271 | 31,394,226 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1500261 | copy number gain | SP50571 | SNP array | SNP genotyping analysis | 13 |
| nssv1500363 | copy number loss | SP50077 | SNP array | SNP genotyping analysis | 11 |
| nssv1515871 | copy number loss | SP56301 | SNP array | SNP genotyping analysis | 19 |
| nssv1529348 | copy number loss | SP81507 | SNP array | SNP genotyping analysis | 9 |
| nssv1535999 | copy number gain | MS12577 | SNP array | SNP genotyping analysis | 23 |
| nssv1540749 | copy number loss | MS15014 | SNP array | SNP genotyping analysis | 13 |
| nssv1570314 | copy number loss | IS31879 | SNP array | SNP genotyping analysis | 17 |
| nssv1583361 | copy number loss | IS36442 | SNP array | SNP genotyping analysis | 12 |
| nssv1586541 | copy number loss | IS37860 | SNP array | SNP genotyping analysis | 15 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1500261 | Remapped | Good | NT_167249.2:g.(261 2428_2612428)_(262 0660_2620660)dup | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 2,612,428 | 2,612,428 | 2,620,660 | 2,620,660 |
| nssv1500363 | Remapped | Good | NT_167249.2:g.(261 2428_2612428)_(262 0660_2620660)del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 2,612,428 | 2,612,428 | 2,620,660 | 2,620,660 |
| nssv1515871 | Remapped | Good | NT_167249.2:g.(261 2428_2612428)_(262 0660_2620660)del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 2,612,428 | 2,612,428 | 2,620,660 | 2,620,660 |
| nssv1529348 | Remapped | Good | NT_167249.2:g.(261 2428_2612428)_(262 0660_2620660)del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 2,612,428 | 2,612,428 | 2,620,660 | 2,620,660 |
| nssv1535999 | Remapped | Good | NT_167249.2:g.(261 2428_2612428)_(262 0660_2620660)dup | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 2,612,428 | 2,612,428 | 2,620,660 | 2,620,660 |
| nssv1540749 | Remapped | Good | NT_167249.2:g.(261 2428_2612428)_(262 0660_2620660)del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 2,612,428 | 2,612,428 | 2,620,660 | 2,620,660 |
| nssv1570314 | Remapped | Good | NT_167249.2:g.(261 2428_2612428)_(262 0660_2620660)del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 2,612,428 | 2,612,428 | 2,620,660 | 2,620,660 |
| nssv1583361 | Remapped | Good | NT_167249.2:g.(261 2428_2612428)_(262 0660_2620660)del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 2,612,428 | 2,612,428 | 2,620,660 | 2,620,660 |
| nssv1586541 | Remapped | Good | NT_167249.2:g.(261 2428_2612428)_(262 0660_2620660)del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 2,612,428 | 2,612,428 | 2,620,660 | 2,620,660 |
| nssv1500261 | Remapped | Pass | NT_167246.2:g.(261 9194_2619194)_(262 5775_?)dup | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 2,619,194 | 2,619,194 | 2,625,775 | - |
| nssv1500363 | Remapped | Pass | NT_167246.2:g.(261 9194_2619194)_(262 5775_?)del | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 2,619,194 | 2,619,194 | 2,625,775 | - |
| nssv1515871 | Remapped | Pass | NT_167246.2:g.(261 9194_2619194)_(262 5775_?)del | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 2,619,194 | 2,619,194 | 2,625,775 | - |
| nssv1529348 | Remapped | Pass | NT_167246.2:g.(261 9194_2619194)_(262 5775_?)del | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 2,619,194 | 2,619,194 | 2,625,775 | - |
| nssv1535999 | Remapped | Pass | NT_167246.2:g.(261 9194_2619194)_(262 5775_?)dup | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 2,619,194 | 2,619,194 | 2,625,775 | - |
| nssv1540749 | Remapped | Pass | NT_167246.2:g.(261 9194_2619194)_(262 5775_?)del | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 2,619,194 | 2,619,194 | 2,625,775 | - |
| nssv1570314 | Remapped | Pass | NT_167246.2:g.(261 9194_2619194)_(262 5775_?)del | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 2,619,194 | 2,619,194 | 2,625,775 | - |
| nssv1583361 | Remapped | Pass | NT_167246.2:g.(261 9194_2619194)_(262 5775_?)del | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 2,619,194 | 2,619,194 | 2,625,775 | - |
| nssv1586541 | Remapped | Pass | NT_167246.2:g.(261 9194_2619194)_(262 5775_?)del | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 2,619,194 | 2,619,194 | 2,625,775 | - |
| nssv1500261 | Remapped | Perfect | NC_000006.12:g.(31 310211_31312324)_( 31317515_31318470) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,310,211 | 31,312,324 | 31,317,515 | 31,318,470 |
| nssv1500363 | Remapped | Perfect | NC_000006.12:g.(31 310211_31312324)_( 31317515_31318470) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,310,211 | 31,312,324 | 31,317,515 | 31,318,470 |
| nssv1515871 | Remapped | Perfect | NC_000006.12:g.(31 310211_31312324)_( 31317515_31318470) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,310,211 | 31,312,324 | 31,317,515 | 31,318,470 |
| nssv1529348 | Remapped | Perfect | NC_000006.12:g.(31 310211_31312324)_( 31317515_31318470) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,310,211 | 31,312,324 | 31,317,515 | 31,318,470 |
| nssv1535999 | Remapped | Perfect | NC_000006.12:g.(31 310211_31312324)_( 31317515_31318470) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,310,211 | 31,312,324 | 31,317,515 | 31,318,470 |
| nssv1540749 | Remapped | Perfect | NC_000006.12:g.(31 310211_31312324)_( 31317515_31318470) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,310,211 | 31,312,324 | 31,317,515 | 31,318,470 |
| nssv1570314 | Remapped | Perfect | NC_000006.12:g.(31 310211_31312324)_( 31317515_31318470) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,310,211 | 31,312,324 | 31,317,515 | 31,318,470 |
| nssv1583361 | Remapped | Perfect | NC_000006.12:g.(31 310211_31312324)_( 31317515_31318470) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,310,211 | 31,312,324 | 31,317,515 | 31,318,470 |
| nssv1586541 | Remapped | Perfect | NC_000006.12:g.(31 310211_31312324)_( 31317515_31318470) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,310,211 | 31,312,324 | 31,317,515 | 31,318,470 |
| nssv1500261 | Remapped | Good | NT_167249.1:g.(261 1726_2611726)_(261 9958_2619958)dup | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 2,611,726 | 2,611,726 | 2,619,958 | 2,619,958 |
| nssv1500363 | Remapped | Good | NT_167249.1:g.(261 1726_2611726)_(261 9958_2619958)del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 2,611,726 | 2,611,726 | 2,619,958 | 2,619,958 |
| nssv1515871 | Remapped | Good | NT_167249.1:g.(261 1726_2611726)_(261 9958_2619958)del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 2,611,726 | 2,611,726 | 2,619,958 | 2,619,958 |
| nssv1529348 | Remapped | Good | NT_167249.1:g.(261 1726_2611726)_(261 9958_2619958)del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 2,611,726 | 2,611,726 | 2,619,958 | 2,619,958 |
| nssv1535999 | Remapped | Good | NT_167249.1:g.(261 1726_2611726)_(261 9958_2619958)dup | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 2,611,726 | 2,611,726 | 2,619,958 | 2,619,958 |
| nssv1540749 | Remapped | Good | NT_167249.1:g.(261 1726_2611726)_(261 9958_2619958)del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 2,611,726 | 2,611,726 | 2,619,958 | 2,619,958 |
| nssv1570314 | Remapped | Good | NT_167249.1:g.(261 1726_2611726)_(261 9958_2619958)del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 2,611,726 | 2,611,726 | 2,619,958 | 2,619,958 |
| nssv1583361 | Remapped | Good | NT_167249.1:g.(261 1726_2611726)_(261 9958_2619958)del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 2,611,726 | 2,611,726 | 2,619,958 | 2,619,958 |
| nssv1586541 | Remapped | Good | NT_167249.1:g.(261 1726_2611726)_(261 9958_2619958)del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 2,611,726 | 2,611,726 | 2,619,958 | 2,619,958 |
| nssv1500261 | Remapped | Pass | NT_167246.1:g.(262 4814_2624814)_(263 1393_?)dupNT_16724 6.1:g.(2624814_262 4814)_(2631393_?)d up | GRCh37.p13 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 2,624,814 | 2,624,814 | 2,631,393 | - |
| nssv1500363 | Remapped | Pass | NT_167246.1:g.(262 4814_2624814)_(263 1393_?)delNT_16724 6.1:g.(2624814_262 4814)_(2631393_?)d el | GRCh37.p13 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 2,624,814 | 2,624,814 | 2,631,393 | - |
| nssv1515871 | Remapped | Pass | NT_167246.1:g.(262 4814_2624814)_(263 1393_?)delNT_16724 6.1:g.(2624814_262 4814)_(2631393_?)d el | GRCh37.p13 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 2,624,814 | 2,624,814 | 2,631,393 | - |
| nssv1529348 | Remapped | Pass | NT_167246.1:g.(262 4814_2624814)_(263 1393_?)delNT_16724 6.1:g.(2624814_262 4814)_(2631393_?)d el | GRCh37.p13 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 2,624,814 | 2,624,814 | 2,631,393 | - |
| nssv1535999 | Remapped | Pass | NT_167246.1:g.(262 4814_2624814)_(263 1393_?)dupNT_16724 6.1:g.(2624814_262 4814)_(2631393_?)d up | GRCh37.p13 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 2,624,814 | 2,624,814 | 2,631,393 | - |
| nssv1540749 | Remapped | Pass | NT_167246.1:g.(262 4814_2624814)_(263 1393_?)delNT_16724 6.1:g.(2624814_262 4814)_(2631393_?)d el | GRCh37.p13 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 2,624,814 | 2,624,814 | 2,631,393 | - |
| nssv1570314 | Remapped | Pass | NT_167246.1:g.(262 4814_2624814)_(263 1393_?)delNT_16724 6.1:g.(2624814_262 4814)_(2631393_?)d el | GRCh37.p13 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 2,624,814 | 2,624,814 | 2,631,393 | - |
| nssv1583361 | Remapped | Pass | NT_167246.1:g.(262 4814_2624814)_(263 1393_?)delNT_16724 6.1:g.(2624814_262 4814)_(2631393_?)d el | GRCh37.p13 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 2,624,814 | 2,624,814 | 2,631,393 | - |
| nssv1586541 | Remapped | Pass | NT_167246.1:g.(262 4814_2624814)_(263 1393_?)delNT_16724 6.1:g.(2624814_262 4814)_(2631393_?)d el | GRCh37.p13 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 2,624,814 | 2,624,814 | 2,631,393 | - |
| nssv1500261 | Remapped | Perfect | NC_000006.11:g.(31 277988_31280101)_( 31285292_31286247) dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,277,988 | 31,280,101 | 31,285,292 | 31,286,247 |
| nssv1500363 | Remapped | Perfect | NC_000006.11:g.(31 277988_31280101)_( 31285292_31286247) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,277,988 | 31,280,101 | 31,285,292 | 31,286,247 |
| nssv1515871 | Remapped | Perfect | NC_000006.11:g.(31 277988_31280101)_( 31285292_31286247) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,277,988 | 31,280,101 | 31,285,292 | 31,286,247 |
| nssv1529348 | Remapped | Perfect | NC_000006.11:g.(31 277988_31280101)_( 31285292_31286247) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,277,988 | 31,280,101 | 31,285,292 | 31,286,247 |
| nssv1535999 | Remapped | Perfect | NC_000006.11:g.(31 277988_31280101)_( 31285292_31286247) dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,277,988 | 31,280,101 | 31,285,292 | 31,286,247 |
| nssv1540749 | Remapped | Perfect | NC_000006.11:g.(31 277988_31280101)_( 31285292_31286247) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,277,988 | 31,280,101 | 31,285,292 | 31,286,247 |
| nssv1570314 | Remapped | Perfect | NC_000006.11:g.(31 277988_31280101)_( 31285292_31286247) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,277,988 | 31,280,101 | 31,285,292 | 31,286,247 |
| nssv1583361 | Remapped | Perfect | NC_000006.11:g.(31 277988_31280101)_( 31285292_31286247) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,277,988 | 31,280,101 | 31,285,292 | 31,286,247 |
| nssv1586541 | Remapped | Perfect | NC_000006.11:g.(31 277988_31280101)_( 31285292_31286247) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,277,988 | 31,280,101 | 31,285,292 | 31,286,247 |
| nssv1500261 | Submitted genomic | NC_000006.10:g.(31 385967_31388080)_( 31393271_31394226) dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,385,967 | 31,388,080 | 31,393,271 | 31,394,226 | ||
| nssv1500363 | Submitted genomic | NC_000006.10:g.(31 385967_31388080)_( 31393271_31394226) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,385,967 | 31,388,080 | 31,393,271 | 31,394,226 | ||
| nssv1515871 | Submitted genomic | NC_000006.10:g.(31 385967_31388080)_( 31393271_31394226) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,385,967 | 31,388,080 | 31,393,271 | 31,394,226 | ||
| nssv1529348 | Submitted genomic | NC_000006.10:g.(31 385967_31388080)_( 31393271_31394226) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,385,967 | 31,388,080 | 31,393,271 | 31,394,226 | ||
| nssv1535999 | Submitted genomic | NC_000006.10:g.(31 385967_31388080)_( 31393271_31394226) dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,385,967 | 31,388,080 | 31,393,271 | 31,394,226 | ||
| nssv1540749 | Submitted genomic | NC_000006.10:g.(31 385967_31388080)_( 31393271_31394226) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,385,967 | 31,388,080 | 31,393,271 | 31,394,226 | ||
| nssv1570314 | Submitted genomic | NC_000006.10:g.(31 385967_31388080)_( 31393271_31394226) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,385,967 | 31,388,080 | 31,393,271 | 31,394,226 | ||
| nssv1583361 | Submitted genomic | NC_000006.10:g.(31 385967_31388080)_( 31393271_31394226) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,385,967 | 31,388,080 | 31,393,271 | 31,394,226 | ||
| nssv1586541 | Submitted genomic | NC_000006.10:g.(31 385967_31388080)_( 31393271_31394226) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,385,967 | 31,388,080 | 31,393,271 | 31,394,226 |