nsv6314779
- 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:1,448,989
- 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: 5517 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 3108 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 5519 SVs from 119 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314779 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 15,018,282 | 16,467,270 |
| nsv6314779 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 857,626 | 2,128,327 |
| nsv6314779 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 15,112,139 | 16,561,127 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17976214 | copy number loss | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976214 | Remapped | Pass | NT_187607.1:g.(857 626_?)_(?_2128327) del | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 857,626 | 2,128,327 |
| nssv17976214 | Remapped | Perfect | NC_000016.10:g.(15 018282_?)_(?_16467 270)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,018,282 | 16,467,270 |
| nssv17976214 | Submitted genomic | NC_000016.9:g.(151 12139_?)_(?_165611 27)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 15,112,139 | 16,561,127 |