nsv959730
- Organism: Homo sapiens
- Study:nstd86 (Poultney et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:10,175
- Publication(s):Poultney et al. 2013
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: 224 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 224 SVs from 35 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv959730 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 11,960,644 | 11,970,818 |
| nsv959730 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 12,020,701 | 12,030,875 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3021596 | duplication | Sequencing | Read depth |
| nssv3021210 | deletion | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv3021596 | Remapped | Perfect | NC_000001.11:g.(11 958649_11960644)_( 11970818_11972870) dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 11,958,649 | 11,960,644 | 11,970,818 | 11,972,870 |
| nssv3021210 | Remapped | Perfect | NC_000001.11:g.(11 960769_11963530)_( 11970818_11972870) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 11,960,769 | 11,963,530 | 11,970,818 | 11,972,870 |
| nssv3021596 | Submitted genomic | NC_000001.10:g.(12 018706_12020701)_( 12030875_12032927) dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,018,706 | 12,020,701 | 12,030,875 | 12,032,927 | ||
| nssv3021210 | Submitted genomic | NC_000001.10:g.(12 020826_12023587)_( 12030875_12032927) del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,020,826 | 12,023,587 | 12,030,875 | 12,032,927 |