nsv908390
- Organism: Homo sapiens
- Study:nstd71 (Xu et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:317,603
- 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: 2089 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 2160 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1263 SVs from 27 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv908390 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 46,342,566 | 46,342,566 | 46,660,168 | 46,660,168 |
| nsv908390 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 44,419,932 | 44,419,932 | 44,737,534 | 44,737,534 |
| nsv908390 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 41,775,690 | 41,780,482 | 42,043,082 | 42,092,850 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1524691 | copy number gain | SP55165 | SNP array | SNP genotyping analysis | 12 |
| nssv1531352 | copy number loss | MS10400 | SNP array | SNP genotyping analysis | 15 |
| nssv1536168 | copy number gain | MS12642 | SNP array | SNP genotyping analysis | 9 |
| nssv1552454 | copy number loss | MS19437 | SNP array | SNP genotyping analysis | 18 |
| nssv1558449 | copy number loss | MS23258 | SNP array | SNP genotyping analysis | 14 |
| nssv1561483 | copy number gain | MS25028 | SNP array | SNP genotyping analysis | 9 |
| nssv1579785 | copy number gain | IS35180 | SNP array | SNP genotyping analysis | 11 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1524691 | Remapped | Good | NC_000017.11:g.(46 342566_46342566)_( 46660168_46660168) dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,342,566 | 46,342,566 | 46,660,168 | 46,660,168 |
| nssv1531352 | Remapped | Good | NC_000017.11:g.(46 342566_46342566)_( 46660168_46660168) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,342,566 | 46,342,566 | 46,660,168 | 46,660,168 |
| nssv1536168 | Remapped | Good | NC_000017.11:g.(46 342566_46342566)_( 46660168_46660168) dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,342,566 | 46,342,566 | 46,660,168 | 46,660,168 |
| nssv1552454 | Remapped | Good | NC_000017.11:g.(46 342566_46342566)_( 46660168_46660168) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,342,566 | 46,342,566 | 46,660,168 | 46,660,168 |
| nssv1558449 | Remapped | Good | NC_000017.11:g.(46 342566_46342566)_( 46660168_46660168) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,342,566 | 46,342,566 | 46,660,168 | 46,660,168 |
| nssv1561483 | Remapped | Good | NC_000017.11:g.(46 342566_46342566)_( 46660168_46660168) dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,342,566 | 46,342,566 | 46,660,168 | 46,660,168 |
| nssv1579785 | Remapped | Good | NC_000017.11:g.(46 342566_46342566)_( 46660168_46660168) dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,342,566 | 46,342,566 | 46,660,168 | 46,660,168 |
| nssv1524691 | Remapped | Good | NC_000017.10:g.(44 419932_44419932)_( 44737534_44737534) dup | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 44,419,932 | 44,419,932 | 44,737,534 | 44,737,534 |
| nssv1531352 | Remapped | Good | NC_000017.10:g.(44 419932_44419932)_( 44737534_44737534) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 44,419,932 | 44,419,932 | 44,737,534 | 44,737,534 |
| nssv1536168 | Remapped | Good | NC_000017.10:g.(44 419932_44419932)_( 44737534_44737534) dup | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 44,419,932 | 44,419,932 | 44,737,534 | 44,737,534 |
| nssv1552454 | Remapped | Good | NC_000017.10:g.(44 419932_44419932)_( 44737534_44737534) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 44,419,932 | 44,419,932 | 44,737,534 | 44,737,534 |
| nssv1558449 | Remapped | Good | NC_000017.10:g.(44 419932_44419932)_( 44737534_44737534) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 44,419,932 | 44,419,932 | 44,737,534 | 44,737,534 |
| nssv1561483 | Remapped | Good | NC_000017.10:g.(44 419932_44419932)_( 44737534_44737534) dup | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 44,419,932 | 44,419,932 | 44,737,534 | 44,737,534 |
| nssv1579785 | Remapped | Good | NC_000017.10:g.(44 419932_44419932)_( 44737534_44737534) dup | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 44,419,932 | 44,419,932 | 44,737,534 | 44,737,534 |
| nssv1524691 | Submitted genomic | NC_000017.9:g.(417 75690_41780482)_(4 2043082_42092850)d up | NCBI36 (hg18) | NC_000017.9 | Chr17 | 41,775,690 | 41,780,482 | 42,043,082 | 42,092,850 | ||
| nssv1531352 | Submitted genomic | NC_000017.9:g.(417 75690_41780482)_(4 2043082_42092850)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 41,775,690 | 41,780,482 | 42,043,082 | 42,092,850 | ||
| nssv1536168 | Submitted genomic | NC_000017.9:g.(417 75690_41780482)_(4 2043082_42092850)d up | NCBI36 (hg18) | NC_000017.9 | Chr17 | 41,775,690 | 41,780,482 | 42,043,082 | 42,092,850 | ||
| nssv1552454 | Submitted genomic | NC_000017.9:g.(417 75690_41780482)_(4 2043082_42092850)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 41,775,690 | 41,780,482 | 42,043,082 | 42,092,850 | ||
| nssv1558449 | Submitted genomic | NC_000017.9:g.(417 75690_41780482)_(4 2043082_42092850)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 41,775,690 | 41,780,482 | 42,043,082 | 42,092,850 | ||
| nssv1561483 | Submitted genomic | NC_000017.9:g.(417 75690_41780482)_(4 2043082_42092850)d up | NCBI36 (hg18) | NC_000017.9 | Chr17 | 41,775,690 | 41,780,482 | 42,043,082 | 42,092,850 | ||
| nssv1579785 | Submitted genomic | NC_000017.9:g.(417 75690_41780482)_(4 2043082_42092850)d up | NCBI36 (hg18) | NC_000017.9 | Chr17 | 41,775,690 | 41,780,482 | 42,043,082 | 42,092,850 |