nsv1142631
- Organism: Homo sapiens
- Study:nstd106 (Alsmadi 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:49,233,416
- Publication(s):Alsmadi 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: 116858 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 116520 SVs from 145 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1142631 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 22,170,057 | 71,403,472 |
| nsv1142631 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 22,170,166 | 70,699,299 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3994118 | deletion | KWS1 | Sequencing | Read depth and paired-end mapping | 22,470 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3994118 | Remapped | Good | NC_000005.10:g.(22 170057_?)_(?_71403 472)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 22,170,057 | 71,403,472 |
| nssv3994118 | Submitted genomic | NC_000005.9:g.(221 70166_?)_(?_706992 99)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 22,170,166 | 70,699,299 |