nsv6135631
- Organism: Homo sapiens
- Study:nstd213 (Pham et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:215,018
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: 643 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 643 SVs from 52 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv6135631 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 138,765,874 | 138,765,890 | 138,980,878 | 138,980,891 |
| nsv6135631 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 138,101,563 | 138,101,579 | 138,316,567 | 138,316,580 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17680049 | deletion | SAMN20524662 | Sequencing | Paired-end mapping | 1,603 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv17680049 | Remapped | Perfect | NC_000005.10:g.(13 8765874_138765890) _(138980878_138980 891)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 138,765,874 | 138,765,890 | 138,980,878 | 138,980,891 |
| nssv17680049 | Submitted genomic | NC_000005.9:g.(138 101563_138101579)_ (138316567_1383165 80)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 138,101,563 | 138,101,579 | 138,316,567 | 138,316,580 |