nsv6314790
- Organism: Homo sapiens
- Study:nstd220 (Chen et al. 2022)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,704,391
- Publication(s):Chen et al. 2022
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: 4930 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 3910 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 5083 SVs from 108 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 | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv6314790 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000017.11 | Chr17 | - | 36,446,545 | 38,150,935 |
| nsv6314790 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | - | 694,163 | 2,186,050 |
| nsv6314790 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 34,710,859 | - | 36,306,985 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17976211 | copy number loss | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv17976211 | Remapped | Pass | NT_187614.1:g.(?_6 94163)_(?_2186050) del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | - | 694,163 | 2,186,050 |
| nssv17976211 | Remapped | Pass | NC_000017.11:g.(?_ 36446545)_(?_38150 935)del | GRCh38.p12 | Second Pass | NC_000017.11 | Chr17 | - | 36,446,545 | 38,150,935 |
| nssv17976211 | Submitted genomic | NC_000017.10:g.(34 710859_?)_(?_36306 985)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 34,710,859 | - | 36,306,985 |