nsv4374175
- 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:467,523
- 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: 2790 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 2926 SVs from 101 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4374175 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 22,041,843 | 22,509,365 |
| nsv4374175 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 22,510,089 | 22,978,349 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15632059 | copy number gain | 10-0009-002 | SNP array | Genotyping | 21 |
| nssv15672234 | copy number gain | 9-0028-001 | SNP array | Genotyping | 16 |
| nssv15674015 | copy number gain | 9-0030-003 | SNP array | Genotyping | 20 |
| nssv15684257 | copy number gain | OCD1132-5766 | SNP array | Genotyping | 19 |
| nssv15687872 | copy number gain | OCD51-S_0625-7445-2 | SNP array | Genotyping | 16 |
| nssv15695344 | copy number gain | 158451 | SNP array | Genotyping | 27 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15632059 | Remapped | Good | NC_000014.9:g.(?_2 2041843)_(22509365 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,041,843 | 22,509,365 |
| nssv15672234 | Remapped | Good | NC_000014.9:g.(?_2 2041843)_(22509365 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,041,843 | 22,509,365 |
| nssv15674015 | Remapped | Good | NC_000014.9:g.(?_2 2041843)_(22509365 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,041,843 | 22,509,365 |
| nssv15684257 | Remapped | Good | NC_000014.9:g.(?_2 2041843)_(22509365 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,041,843 | 22,509,365 |
| nssv15687872 | Remapped | Good | NC_000014.9:g.(?_2 2041843)_(22509365 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,041,843 | 22,509,365 |
| nssv15695344 | Remapped | Good | NC_000014.9:g.(?_2 2041843)_(22509365 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,041,843 | 22,509,365 |
| nssv15632059 | Submitted genomic | NC_000014.8:g.(?_2 2510089)_(22978349 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,510,089 | 22,978,349 | ||
| nssv15672234 | Submitted genomic | NC_000014.8:g.(?_2 2510089)_(22978349 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,510,089 | 22,978,349 | ||
| nssv15674015 | Submitted genomic | NC_000014.8:g.(?_2 2510089)_(22978349 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,510,089 | 22,978,349 | ||
| nssv15684257 | Submitted genomic | NC_000014.8:g.(?_2 2510089)_(22978349 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,510,089 | 22,978,349 | ||
| nssv15687872 | Submitted genomic | NC_000014.8:g.(?_2 2510089)_(22978349 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,510,089 | 22,978,349 | ||
| nssv15695344 | Submitted genomic | NC_000014.8:g.(?_2 2510089)_(22978349 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,510,089 | 22,978,349 |