nsv4388431
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:39,404
- Publication(s):Zarrei et al. 2019
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: 389 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 391 SVs from 51 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4388431 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 111,081,162 | 111,120,565 |
nsv4388431 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 110,416,860 | 110,456,263 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15620714 | copy number gain | 1-0993-003 | SNP array | Genotyping | 21 |
nssv15650484 | copy number gain | 2-1485-003 | SNP array | Genotyping | 16 |
nssv15651757 | copy number gain | 2-1568-002 | SNP array | Genotyping | 25 |
nssv15668882 | copy number gain | 7-0232-004 | SNP array | Genotyping | 18 |
nssv15674505 | copy number gain | 9-0044-001 | SNP array | Genotyping | 19 |
nssv15699067 | copy number gain | 178076 | SNP array | Genotyping | 15 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15620714 | Remapped | Perfect | NC_000005.10:g.(?_ 111081162)_(111120 565_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 111,081,162 | 111,120,565 |
nssv15650484 | Remapped | Perfect | NC_000005.10:g.(?_ 111081162)_(111120 565_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 111,081,162 | 111,120,565 |
nssv15651757 | Remapped | Perfect | NC_000005.10:g.(?_ 111081162)_(111120 565_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 111,081,162 | 111,120,565 |
nssv15668882 | Remapped | Perfect | NC_000005.10:g.(?_ 111081162)_(111120 565_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 111,081,162 | 111,120,565 |
nssv15674505 | Remapped | Perfect | NC_000005.10:g.(?_ 111081162)_(111120 565_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 111,081,162 | 111,120,565 |
nssv15699067 | Remapped | Perfect | NC_000005.10:g.(?_ 111081162)_(111120 565_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 111,081,162 | 111,120,565 |
nssv15620714 | Submitted genomic | NC_000005.9:g.(?_1 10416860)_(1104562 63_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 110,416,860 | 110,456,263 | ||
nssv15650484 | Submitted genomic | NC_000005.9:g.(?_1 10416860)_(1104562 63_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 110,416,860 | 110,456,263 | ||
nssv15651757 | Submitted genomic | NC_000005.9:g.(?_1 10416860)_(1104562 63_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 110,416,860 | 110,456,263 | ||
nssv15668882 | Submitted genomic | NC_000005.9:g.(?_1 10416860)_(1104562 63_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 110,416,860 | 110,456,263 | ||
nssv15674505 | Submitted genomic | NC_000005.9:g.(?_1 10416860)_(1104562 63_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 110,416,860 | 110,456,263 | ||
nssv15699067 | Submitted genomic | NC_000005.9:g.(?_1 10416860)_(1104562 63_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 110,416,860 | 110,456,263 |