nsv1076597
- Organism: Homo sapiens
- Study:nstd99 (Thareja et al. 2015)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:57,978
- Publication(s):Thareja et al. 2015
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: 141 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 64 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 1156 SVs from 81 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv1076597 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000003.12 | Chr3 | 91,458,843 | 91,516,820 |
| nsv1076597 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_009646198.1 | Chr3|NW_00 9646198.1 | 211,504 | 269,480 |
| nsv1076597 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 57,321,899 | 57,423,100 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3770593 | duplication | KWP1 | Sequencing | Read depth and paired-end mapping | 11,116 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3770593 | Remapped | Pass | NW_009646198.1:g.2 11504_269480dup | GRCh38.p12 | Second Pass | NW_009646198.1 | Chr3|NW_00 9646198.1 | 211,504 | 269,480 |
| nssv3770593 | Remapped | Pass | NC_000003.12:g.914 58843_91516820dup | GRCh38.p12 | Second Pass | NC_000003.12 | Chr3 | 91,458,843 | 91,516,820 |
| nssv3770593 | Submitted genomic | NC_000006.11:g.573 21899_57423100dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 57,321,899 | 57,423,100 |