nsv9183
- Organism: Homo sapiens
- Study:nstd4 (Perry et al. 2008)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:23,645
- Publication(s):Perry et al. 2008
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: 1007 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 29 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 185 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 1239 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv9183 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 23,038,259 | 23,057,287 |
| nsv9183 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187659.1 | Chr15|NT_1 87659.1 | 2,992 | 26,636 |
| nsv9183 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187603.1 | Chr15|NT_1 87603.1 | 135,282 | 157,284 |
| nsv9183 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 22,815,781 | 22,834,809 |
| nsv9183 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000015.8 | Chr15 | 20,367,145 | 20,386,250 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv20822 | copy number loss | NA07029 | Oligo aCGH | Probe signal intensity | 544 |
| nssv21526 | copy number loss | NA18552 | Oligo aCGH | Probe signal intensity | 537 |
| nssv24967 | copy number loss | NA18517 | Oligo aCGH | Probe signal intensity | 698 |
| nssv23007 | copy number gain | NA12155 | Oligo aCGH | Probe signal intensity | 667 |
| nssv20021 | copy number loss | NA12872 | Oligo aCGH | Probe signal intensity | 470 |
| nssv21680 | copy number loss | NA18853 | Oligo aCGH | Probe signal intensity | 569 |
| nssv22319 | copy number loss | NA19173 | Oligo aCGH | Probe signal intensity | 603 |
| nssv22597 | copy number loss | NA11830 | Oligo aCGH | Probe signal intensity | 568 |
| nssv24168 | copy number loss | NA19240 | Oligo aCGH | Probe signal intensity | 641 |
| nssv25078 | copy number loss | NA19132 | Oligo aCGH | Probe signal intensity | 684 |
| nssv25740 | copy number loss | NA18860 | Oligo aCGH | Probe signal intensity | 768 |
| nssv27067 | copy number loss | NA19221 | Oligo aCGH | Probe signal intensity | 857 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv20822 | Remapped | Pass | NT_187659.1:g.(299 2_2992)_(25861_258 61)del | GRCh38.p12 | Second Pass | NT_187659.1 | Chr15|NT_1 87659.1 | 2,992 | 2,992 | 25,861 | 25,861 |
| nssv21526 | Remapped | Pass | NT_187659.1:g.(366 5_3665)_(25861_258 61)del | GRCh38.p12 | Second Pass | NT_187659.1 | Chr15|NT_1 87659.1 | 3,665 | 3,665 | 25,861 | 25,861 |
| nssv24967 | Remapped | Pass | NT_187659.1:g.(366 5_3665)_(25861_258 61)del | GRCh38.p12 | Second Pass | NT_187659.1 | Chr15|NT_1 87659.1 | 3,665 | 3,665 | 25,861 | 25,861 |
| nssv23007 | Remapped | Pass | NT_187659.1:g.(366 5_3665)_(26636_266 36)dup | GRCh38.p12 | Second Pass | NT_187659.1 | Chr15|NT_1 87659.1 | 3,665 | 3,665 | 26,636 | 26,636 |
| nssv20021 | Remapped | Pass | NT_187659.1:g.(465 8_4658)_(25861_258 61)del | GRCh38.p12 | Second Pass | NT_187659.1 | Chr15|NT_1 87659.1 | 4,658 | 4,658 | 25,861 | 25,861 |
| nssv21680 | Remapped | Pass | NT_187659.1:g.(465 8_4658)_(25861_258 61)del | GRCh38.p12 | Second Pass | NT_187659.1 | Chr15|NT_1 87659.1 | 4,658 | 4,658 | 25,861 | 25,861 |
| nssv22319 | Remapped | Pass | NT_187659.1:g.(465 8_4658)_(25861_258 61)del | GRCh38.p12 | Second Pass | NT_187659.1 | Chr15|NT_1 87659.1 | 4,658 | 4,658 | 25,861 | 25,861 |
| nssv22597 | Remapped | Pass | NT_187659.1:g.(465 8_4658)_(25861_258 61)del | GRCh38.p12 | Second Pass | NT_187659.1 | Chr15|NT_1 87659.1 | 4,658 | 4,658 | 25,861 | 25,861 |
| nssv24168 | Remapped | Pass | NT_187659.1:g.(465 8_4658)_(26636_266 36)del | GRCh38.p12 | Second Pass | NT_187659.1 | Chr15|NT_1 87659.1 | 4,658 | 4,658 | 26,636 | 26,636 |
| nssv25078 | Remapped | Pass | NT_187659.1:g.(465 8_4658)_(26636_266 36)del | GRCh38.p12 | Second Pass | NT_187659.1 | Chr15|NT_1 87659.1 | 4,658 | 4,658 | 26,636 | 26,636 |
| nssv25740 | Remapped | Pass | NT_187659.1:g.(465 8_4658)_(26636_266 36)del | GRCh38.p12 | Second Pass | NT_187659.1 | Chr15|NT_1 87659.1 | 4,658 | 4,658 | 26,636 | 26,636 |
| nssv27067 | Remapped | Pass | NT_187659.1:g.(465 8_4658)_(26636_266 36)del | GRCh38.p12 | Second Pass | NT_187659.1 | Chr15|NT_1 87659.1 | 4,658 | 4,658 | 26,636 | 26,636 |
| nssv20822 | Remapped | Pass | NT_187603.1:g.(135 282_135282)_(15650 9_156509)del | GRCh38.p12 | Second Pass | NT_187603.1 | Chr15|NT_1 87603.1 | 135,282 | 135,282 | 156,509 | 156,509 |
| nssv21526 | Remapped | Pass | NT_187603.1:g.(135 954_135954)_(15650 9_156509)del | GRCh38.p12 | Second Pass | NT_187603.1 | Chr15|NT_1 87603.1 | 135,954 | 135,954 | 156,509 | 156,509 |
| nssv24967 | Remapped | Pass | NT_187603.1:g.(135 954_135954)_(15650 9_156509)del | GRCh38.p12 | Second Pass | NT_187603.1 | Chr15|NT_1 87603.1 | 135,954 | 135,954 | 156,509 | 156,509 |
| nssv23007 | Remapped | Pass | NT_187603.1:g.(135 954_135954)_(15728 4_157284)dup | GRCh38.p12 | Second Pass | NT_187603.1 | Chr15|NT_1 87603.1 | 135,954 | 135,954 | 157,284 | 157,284 |
| nssv20021 | Remapped | Pass | NT_187603.1:g.(136 946_136946)_(15650 9_156509)del | GRCh38.p12 | Second Pass | NT_187603.1 | Chr15|NT_1 87603.1 | 136,946 | 136,946 | 156,509 | 156,509 |
| nssv21680 | Remapped | Pass | NT_187603.1:g.(136 946_136946)_(15650 9_156509)del | GRCh38.p12 | Second Pass | NT_187603.1 | Chr15|NT_1 87603.1 | 136,946 | 136,946 | 156,509 | 156,509 |
| nssv22319 | Remapped | Pass | NT_187603.1:g.(136 946_136946)_(15650 9_156509)del | GRCh38.p12 | Second Pass | NT_187603.1 | Chr15|NT_1 87603.1 | 136,946 | 136,946 | 156,509 | 156,509 |
| nssv22597 | Remapped | Pass | NT_187603.1:g.(136 946_136946)_(15650 9_156509)del | GRCh38.p12 | Second Pass | NT_187603.1 | Chr15|NT_1 87603.1 | 136,946 | 136,946 | 156,509 | 156,509 |
| nssv24168 | Remapped | Pass | NT_187603.1:g.(136 946_136946)_(15728 4_157284)del | GRCh38.p12 | Second Pass | NT_187603.1 | Chr15|NT_1 87603.1 | 136,946 | 136,946 | 157,284 | 157,284 |
| nssv25078 | Remapped | Pass | NT_187603.1:g.(136 946_136946)_(15728 4_157284)del | GRCh38.p12 | Second Pass | NT_187603.1 | Chr15|NT_1 87603.1 | 136,946 | 136,946 | 157,284 | 157,284 |
| nssv25740 | Remapped | Pass | NT_187603.1:g.(136 946_136946)_(15728 4_157284)del | GRCh38.p12 | Second Pass | NT_187603.1 | Chr15|NT_1 87603.1 | 136,946 | 136,946 | 157,284 | 157,284 |
| nssv27067 | Remapped | Pass | NT_187603.1:g.(136 946_136946)_(15728 4_157284)del | GRCh38.p12 | Second Pass | NT_187603.1 | Chr15|NT_1 87603.1 | 136,946 | 136,946 | 157,284 | 157,284 |
| nssv20822 | Remapped | Good | NC_000015.10:g.(23 038259_23038259)_( 23056510_23056510) del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,038,259 | 23,038,259 | 23,056,510 | 23,056,510 |
| nssv21526 | Remapped | Good | NC_000015.10:g.(23 038932_23038932)_( 23056510_23056510) del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,038,932 | 23,038,932 | 23,056,510 | 23,056,510 |
| nssv24967 | Remapped | Good | NC_000015.10:g.(23 038932_23038932)_( 23056510_23056510) del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,038,932 | 23,038,932 | 23,056,510 | 23,056,510 |
| nssv23007 | Remapped | Good | NC_000015.10:g.(23 038932_23038932)_( 23057287_23057287) dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,038,932 | 23,038,932 | 23,057,287 | 23,057,287 |
| nssv20021 | Remapped | Good | NC_000015.10:g.(23 039925_23039925)_( 23056510_23056510) del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,039,925 | 23,039,925 | 23,056,510 | 23,056,510 |
| nssv21680 | Remapped | Good | NC_000015.10:g.(23 039925_23039925)_( 23056510_23056510) del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,039,925 | 23,039,925 | 23,056,510 | 23,056,510 |
| nssv22319 | Remapped | Good | NC_000015.10:g.(23 039925_23039925)_( 23056510_23056510) del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,039,925 | 23,039,925 | 23,056,510 | 23,056,510 |
| nssv22597 | Remapped | Good | NC_000015.10:g.(23 039925_23039925)_( 23056510_23056510) del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,039,925 | 23,039,925 | 23,056,510 | 23,056,510 |
| nssv24168 | Remapped | Good | NC_000015.10:g.(23 039925_23039925)_( 23057287_23057287) del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,039,925 | 23,039,925 | 23,057,287 | 23,057,287 |
| nssv25078 | Remapped | Good | NC_000015.10:g.(23 039925_23039925)_( 23057287_23057287) del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,039,925 | 23,039,925 | 23,057,287 | 23,057,287 |
| nssv25740 | Remapped | Good | NC_000015.10:g.(23 039925_23039925)_( 23057287_23057287) del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,039,925 | 23,039,925 | 23,057,287 | 23,057,287 |
| nssv27067 | Remapped | Good | NC_000015.10:g.(23 039925_23039925)_( 23057287_23057287) del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,039,925 | 23,039,925 | 23,057,287 | 23,057,287 |
| nssv24168 | Remapped | Good | NC_000015.9:g.(228 15781_22815781)_(2 2833143_22833143)d el | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 22,815,781 | 22,815,781 | 22,833,143 | 22,833,143 |
| nssv25078 | Remapped | Good | NC_000015.9:g.(228 15781_22815781)_(2 2833143_22833143)d el | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 22,815,781 | 22,815,781 | 22,833,143 | 22,833,143 |
| nssv25740 | Remapped | Good | NC_000015.9:g.(228 15781_22815781)_(2 2833143_22833143)d el | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 22,815,781 | 22,815,781 | 22,833,143 | 22,833,143 |
| nssv27067 | Remapped | Good | NC_000015.9:g.(228 15781_22815781)_(2 2833143_22833143)d el | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 22,815,781 | 22,815,781 | 22,833,143 | 22,833,143 |
| nssv23007 | Remapped | Good | NC_000015.9:g.(228 15781_22815781)_(2 2834136_22834136)d up | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 22,815,781 | 22,815,781 | 22,834,136 | 22,834,136 |
| nssv20021 | Remapped | Good | NC_000015.9:g.(228 16558_22816558)_(2 2833143_22833143)d el | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 22,816,558 | 22,816,558 | 22,833,143 | 22,833,143 |
| nssv21680 | Remapped | Good | NC_000015.9:g.(228 16558_22816558)_(2 2833143_22833143)d el | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 22,816,558 | 22,816,558 | 22,833,143 | 22,833,143 |
| nssv22319 | Remapped | Good | NC_000015.9:g.(228 16558_22816558)_(2 2833143_22833143)d el | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 22,816,558 | 22,816,558 | 22,833,143 | 22,833,143 |
| nssv22597 | Remapped | Good | NC_000015.9:g.(228 16558_22816558)_(2 2833143_22833143)d el | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 22,816,558 | 22,816,558 | 22,833,143 | 22,833,143 |
| nssv21526 | Remapped | Good | NC_000015.9:g.(228 16558_22816558)_(2 2834136_22834136)d el | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 22,816,558 | 22,816,558 | 22,834,136 | 22,834,136 |
| nssv24967 | Remapped | Good | NC_000015.9:g.(228 16558_22816558)_(2 2834136_22834136)d el | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 22,816,558 | 22,816,558 | 22,834,136 | 22,834,136 |
| nssv20822 | Remapped | Good | NC_000015.9:g.(228 16558_22816558)_(2 2834809_22834809)d el | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 22,816,558 | 22,816,558 | 22,834,809 | 22,834,809 |
| nssv24168 | Submitted genomic | NC_000015.8:g.(203 67145_20367922)_(2 0383079_20384584)d el | NCBI35 (hg17) | NC_000015.8 | Chr15 | 20,367,145 | 20,367,922 | 20,383,079 | 20,384,584 | ||
| nssv25078 | Submitted genomic | NC_000015.8:g.(203 67145_20367922)_(2 0383079_20384584)d el | NCBI35 (hg17) | NC_000015.8 | Chr15 | 20,367,145 | 20,367,922 | 20,383,079 | 20,384,584 | ||
| nssv25740 | Submitted genomic | NC_000015.8:g.(203 67145_20367922)_(2 0383079_20384584)d el | NCBI35 (hg17) | NC_000015.8 | Chr15 | 20,367,145 | 20,367,922 | 20,383,079 | 20,384,584 | ||
| nssv27067 | Submitted genomic | NC_000015.8:g.(203 67145_20367922)_(2 0383079_20384584)d el | NCBI35 (hg17) | NC_000015.8 | Chr15 | 20,367,145 | 20,367,922 | 20,383,079 | 20,384,584 | ||
| nssv23007 | Submitted genomic | NC_000015.8:g.(203 67145_20367922)_(2 0384584_20385577)d up | NCBI35 (hg17) | NC_000015.8 | Chr15 | 20,367,145 | 20,367,922 | 20,384,584 | 20,385,577 | ||
| nssv20021 | Submitted genomic | NC_000015.8:g.(203 67922_20373912)_(2 0383079_20384584)d el | NCBI35 (hg17) | NC_000015.8 | Chr15 | 20,367,922 | 20,373,912 | 20,383,079 | 20,384,584 | ||
| nssv21680 | Submitted genomic | NC_000015.8:g.(203 67922_20373912)_(2 0383079_20384584)d el | NCBI35 (hg17) | NC_000015.8 | Chr15 | 20,367,922 | 20,373,912 | 20,383,079 | 20,384,584 | ||
| nssv22319 | Submitted genomic | NC_000015.8:g.(203 67922_20373912)_(2 0383079_20384584)d el | NCBI35 (hg17) | NC_000015.8 | Chr15 | 20,367,922 | 20,373,912 | 20,383,079 | 20,384,584 | ||
| nssv22597 | Submitted genomic | NC_000015.8:g.(203 67922_20373912)_(2 0383079_20384584)d el | NCBI35 (hg17) | NC_000015.8 | Chr15 | 20,367,922 | 20,373,912 | 20,383,079 | 20,384,584 | ||
| nssv21526 | Submitted genomic | NC_000015.8:g.(203 67922_20373912)_(2 0384584_20385577)d el | NCBI35 (hg17) | NC_000015.8 | Chr15 | 20,367,922 | 20,373,912 | 20,384,584 | 20,385,577 | ||
| nssv24967 | Submitted genomic | NC_000015.8:g.(203 67922_20373912)_(2 0384584_20385577)d el | NCBI35 (hg17) | NC_000015.8 | Chr15 | 20,367,922 | 20,373,912 | 20,384,584 | 20,385,577 | ||
| nssv20822 | Submitted genomic | NC_000015.8:g.(203 67922_20373912)_(2 0385577_20386250)d el | NCBI35 (hg17) | NC_000015.8 | Chr15 | 20,367,922 | 20,373,912 | 20,385,577 | 20,386,250 |