nsv4372546
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:67,895
- 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: 645 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 645 SVs from 78 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4372546 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 32,102,613 | 32,170,507 |
nsv4372546 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 32,102,719 | 32,170,613 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15612180 | copy number gain | 1-0656-002 | SNP array | Genotyping | 25 |
nssv15624147 | copy number gain | 1-0261-003 | SNP array | Genotyping | 20 |
nssv15633401 | copy number gain | 12-4098-002 | SNP array | Genotyping | 22 |
nssv15646399 | copy number gain | 2-1185-003 | SNP array | Genotyping | 13 |
nssv15660716 | copy number gain | 5-0043-003 | SNP array | Genotyping | 22 |
nssv15681525 | copy number gain | OCD109-1649 | SNP array | Genotyping | 22 |
nssv15693090 | copy number gain | OCD85-896743 | SNP array | Genotyping | 22 |
nssv15695549 | copy number gain | 201953 | SNP array | Genotyping | 22 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15612180 | Remapped | Perfect | NC_000005.10:g.(?_ 32102613)_(3217050 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 32,102,613 | 32,170,507 |
nssv15624147 | Remapped | Perfect | NC_000005.10:g.(?_ 32102613)_(3217050 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 32,102,613 | 32,170,507 |
nssv15633401 | Remapped | Perfect | NC_000005.10:g.(?_ 32102613)_(3217050 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 32,102,613 | 32,170,507 |
nssv15646399 | Remapped | Perfect | NC_000005.10:g.(?_ 32102613)_(3217050 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 32,102,613 | 32,170,507 |
nssv15660716 | Remapped | Perfect | NC_000005.10:g.(?_ 32102613)_(3217050 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 32,102,613 | 32,170,507 |
nssv15681525 | Remapped | Perfect | NC_000005.10:g.(?_ 32102613)_(3217050 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 32,102,613 | 32,170,507 |
nssv15693090 | Remapped | Perfect | NC_000005.10:g.(?_ 32102613)_(3217050 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 32,102,613 | 32,170,507 |
nssv15695549 | Remapped | Perfect | NC_000005.10:g.(?_ 32102613)_(3217050 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 32,102,613 | 32,170,507 |
nssv15612180 | Submitted genomic | NC_000005.9:g.(?_3 2102719)_(32170613 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 32,102,719 | 32,170,613 | ||
nssv15624147 | Submitted genomic | NC_000005.9:g.(?_3 2102719)_(32170613 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 32,102,719 | 32,170,613 | ||
nssv15633401 | Submitted genomic | NC_000005.9:g.(?_3 2102719)_(32170613 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 32,102,719 | 32,170,613 | ||
nssv15646399 | Submitted genomic | NC_000005.9:g.(?_3 2102719)_(32170613 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 32,102,719 | 32,170,613 | ||
nssv15660716 | Submitted genomic | NC_000005.9:g.(?_3 2102719)_(32170613 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 32,102,719 | 32,170,613 | ||
nssv15681525 | Submitted genomic | NC_000005.9:g.(?_3 2102719)_(32170613 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 32,102,719 | 32,170,613 | ||
nssv15693090 | Submitted genomic | NC_000005.9:g.(?_3 2102719)_(32170613 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 32,102,719 | 32,170,613 | ||
nssv15695549 | Submitted genomic | NC_000005.9:g.(?_3 2102719)_(32170613 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 32,102,719 | 32,170,613 |