nsv3200062
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:copy number variation
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:91,575
- Publication(s):Chaisson 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: 971 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 971 SVs from 67 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3200062 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 49,069,898 | 49,161,472 | ||
nsv3200062 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 49,071,915 | 49,163,489 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv14272834 | deletion | SAMN00006580 | Optical mapping | Optical mapping | Heterozygous | 14,212 |
nssv14272835 | deletion | SAMN00006581 | Optical mapping | Optical mapping | Heterozygous | 41,185 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14272834 | Submitted genomic | NC_000004.12:g.(49 069898_?)_(?_49161 472)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 49,069,898 | 49,161,472 | ||
nssv14272835 | Submitted genomic | NC_000004.12:g.(49 069898_?)_(?_49161 472)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 49,069,898 | 49,161,472 | ||
nssv14272834 | Remapped | Perfect | NC_000004.11:g.(49 071915_?)_(?_49163 489)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 49,071,915 | 49,163,489 |
nssv14272835 | Remapped | Perfect | NC_000004.11:g.(49 071915_?)_(?_49163 489)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 49,071,915 | 49,163,489 |