nsv3317108
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,865
- Publication(s):Frenkel 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: 227 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 227 SVs from 60 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3317108 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 91,633,777 | 91,640,641 |
nsv3317108 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 94,396,059 | 94,402,923 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14467832 | copy number loss | M2111 | SNP array | SNP genotyping analysis | 18 |
nssv14467999 | copy number loss | M2124 | SNP array | SNP genotyping analysis | 13 |
nssv14468737 | copy number loss | M2177 | SNP array | SNP genotyping analysis | 15 |
nssv14468829 | copy number loss | M2182 | SNP array | SNP genotyping analysis | 32 |
nssv14470763 | copy number loss | M2373 | SNP array | SNP genotyping analysis | 15 |
nssv14471695 | copy number loss | M2477 | SNP array | SNP genotyping analysis | 20 |
nssv14471977 | copy number loss | M2512 | SNP array | SNP genotyping analysis | 22 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14467832 | Remapped | Perfect | NC_000009.12:g.(?_ 91633777)_(9164064 1_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 91,633,777 | 91,640,641 |
nssv14467999 | Remapped | Perfect | NC_000009.12:g.(?_ 91633777)_(9164064 1_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 91,633,777 | 91,640,641 |
nssv14468737 | Remapped | Perfect | NC_000009.12:g.(?_ 91633777)_(9164064 1_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 91,633,777 | 91,640,641 |
nssv14468829 | Remapped | Perfect | NC_000009.12:g.(?_ 91633777)_(9164064 1_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 91,633,777 | 91,640,641 |
nssv14470763 | Remapped | Perfect | NC_000009.12:g.(?_ 91633777)_(9164064 1_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 91,633,777 | 91,640,641 |
nssv14471695 | Remapped | Perfect | NC_000009.12:g.(?_ 91633777)_(9164064 1_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 91,633,777 | 91,640,641 |
nssv14471977 | Remapped | Perfect | NC_000009.12:g.(?_ 91633777)_(9164064 1_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 91,633,777 | 91,640,641 |
nssv14467832 | Submitted genomic | NC_000009.11:g.(?_ 94396059)_(9440292 3_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 94,396,059 | 94,402,923 | ||
nssv14467999 | Submitted genomic | NC_000009.11:g.(?_ 94396059)_(9440292 3_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 94,396,059 | 94,402,923 | ||
nssv14468737 | Submitted genomic | NC_000009.11:g.(?_ 94396059)_(9440292 3_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 94,396,059 | 94,402,923 | ||
nssv14468829 | Submitted genomic | NC_000009.11:g.(?_ 94396059)_(9440292 3_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 94,396,059 | 94,402,923 | ||
nssv14470763 | Submitted genomic | NC_000009.11:g.(?_ 94396059)_(9440292 3_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 94,396,059 | 94,402,923 | ||
nssv14471695 | Submitted genomic | NC_000009.11:g.(?_ 94396059)_(9440292 3_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 94,396,059 | 94,402,923 | ||
nssv14471977 | Submitted genomic | NC_000009.11:g.(?_ 94396059)_(9440292 3_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 94,396,059 | 94,402,923 |