nsv4369026
- 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:85,936
- 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: 813 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 813 SVs from 97 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4369026 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 38,252,947 | 38,338,882 |
nsv4369026 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 38,292,548 | 38,378,483 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15619504 | copy number gain | 1-0181-004 | SNP array | Genotyping | 22 |
nssv15686632 | copy number gain | OCD152-CM-1337(188601) | SNP array | Genotyping | 21 |
nssv15686888 | copy number gain | OCD36-S_0625-0144-3 | SNP array | Genotyping | 17 |
nssv15690906 | copy number gain | OCD171-RS-1772 | SNP array | Genotyping | 14 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15619504 | Remapped | Perfect | NC_000007.14:g.(?_ 38252947)_(3833888 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,252,947 | 38,338,882 |
nssv15686632 | Remapped | Perfect | NC_000007.14:g.(?_ 38252947)_(3833888 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,252,947 | 38,338,882 |
nssv15686888 | Remapped | Perfect | NC_000007.14:g.(?_ 38252947)_(3833888 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,252,947 | 38,338,882 |
nssv15690906 | Remapped | Perfect | NC_000007.14:g.(?_ 38252947)_(3833888 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,252,947 | 38,338,882 |
nssv15619504 | Submitted genomic | NC_000007.13:g.(?_ 38292548)_(3837848 3_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,292,548 | 38,378,483 | ||
nssv15686632 | Submitted genomic | NC_000007.13:g.(?_ 38292548)_(3837848 3_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,292,548 | 38,378,483 | ||
nssv15686888 | Submitted genomic | NC_000007.13:g.(?_ 38292548)_(3837848 3_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,292,548 | 38,378,483 | ||
nssv15690906 | Submitted genomic | NC_000007.13:g.(?_ 38292548)_(3837848 3_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,292,548 | 38,378,483 |