nsv4381145
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:305,971
- 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: 1659 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 1528 SVs from 93 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4381145 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 35,215,224 | 35,521,194 |
| nsv4381145 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 34,449,595 | 34,755,565 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15637365 | copy number gain | 13-0094-003 | SNP array | Genotyping | 20 |
| nssv15640898 | copy number gain | 14-0318-001 | SNP array | Genotyping | 25 |
| nssv15642631 | copy number gain | 15-1133-003 | SNP array | Genotyping | 23 |
| nssv15644183 | copy number gain | 16-1003-001 | SNP array | Genotyping | 22 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15637365 | Remapped | Perfect | NC_000016.10:g.(?_ 35215224)_(3552119 4_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 35,215,224 | 35,521,194 |
| nssv15640898 | Remapped | Perfect | NC_000016.10:g.(?_ 35215224)_(3552119 4_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 35,215,224 | 35,521,194 |
| nssv15642631 | Remapped | Perfect | NC_000016.10:g.(?_ 35215224)_(3552119 4_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 35,215,224 | 35,521,194 |
| nssv15644183 | Remapped | Perfect | NC_000016.10:g.(?_ 35215224)_(3552119 4_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 35,215,224 | 35,521,194 |
| nssv15637365 | Submitted genomic | NC_000016.9:g.(?_3 4449595)_(34755565 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 34,449,595 | 34,755,565 | ||
| nssv15640898 | Submitted genomic | NC_000016.9:g.(?_3 4449595)_(34755565 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 34,449,595 | 34,755,565 | ||
| nssv15642631 | Submitted genomic | NC_000016.9:g.(?_3 4449595)_(34755565 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 34,449,595 | 34,755,565 | ||
| nssv15644183 | Submitted genomic | NC_000016.9:g.(?_3 4449595)_(34755565 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 34,449,595 | 34,755,565 |