nsv4366685
- 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:22,488
- 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: 225 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 225 SVs from 59 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4366685 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 76,139,520 | 76,162,007 |
nsv4366685 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 75,435,345 | 75,457,832 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15617708 | copy number gain | 1-0837-003 | SNP array | Genotyping | 30 |
nssv15656227 | copy number gain | 3-0709-000 | SNP array | Genotyping | 19 |
nssv15683456 | copy number gain | OCD124-B_188563 | SNP array | Genotyping | 28 |
nssv15685333 | copy number gain | OCD117-S_1697 | SNP array | Genotyping | 20 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15617708 | Remapped | Perfect | NC_000005.10:g.(?_ 76139520)_(7616200 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 76,139,520 | 76,162,007 |
nssv15656227 | Remapped | Perfect | NC_000005.10:g.(?_ 76139520)_(7616200 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 76,139,520 | 76,162,007 |
nssv15683456 | Remapped | Perfect | NC_000005.10:g.(?_ 76139520)_(7616200 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 76,139,520 | 76,162,007 |
nssv15685333 | Remapped | Perfect | NC_000005.10:g.(?_ 76139520)_(7616200 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 76,139,520 | 76,162,007 |
nssv15617708 | Submitted genomic | NC_000005.9:g.(?_7 5435345)_(75457832 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 75,435,345 | 75,457,832 | ||
nssv15656227 | Submitted genomic | NC_000005.9:g.(?_7 5435345)_(75457832 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 75,435,345 | 75,457,832 | ||
nssv15683456 | Submitted genomic | NC_000005.9:g.(?_7 5435345)_(75457832 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 75,435,345 | 75,457,832 | ||
nssv15685333 | Submitted genomic | NC_000005.9:g.(?_7 5435345)_(75457832 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 75,435,345 | 75,457,832 |