nsv1150946
- Organism: Homo sapiens
- Study:nstd107 (John et al. 2014)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13,344
- Publication(s):John et al. 2014
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: 567 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 567 SVs from 85 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 |
---|---|---|---|---|---|---|---|---|---|
nsv1150946 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 134,100,229 | 134,113,572 |
nsv1150946 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 133,784,982 | 133,798,325 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv4001879 | deletion | KWB1 | Sequencing | Read depth and paired-end mapping | 8,440 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv4001879 | Remapped | Perfect | NC_000007.14:g.(13 4100229_?)_(?_1341 13572)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 134,100,229 | 134,113,572 |
nssv4001879 | Submitted genomic | NC_000007.13:g.(13 3784982_?)_(?_1337 98325)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 133,784,982 | 133,798,325 |