nsv6314785
- 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:2,805,878
- 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: 8993 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 4049 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 8995 SVs from 124 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv6314785 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 15,301,199 | - | - | 18,107,076 |
| nsv6314785 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | - | 1,015,619 | 2,659,700 | - |
| nsv6314785 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 15,395,056 | - | - | 18,200,933 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17976218 | 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 | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv17976218 | Remapped | Pass | NT_187607.1:g.(?_1 015619)_(2659700_? )del | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | - | 1,015,619 | 2,659,700 | - |
| nssv17976218 | Remapped | Perfect | NC_000016.10:g.(15 301199_?)_(?_18107 076)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,301,199 | - | - | 18,107,076 |
| nssv17976218 | Submitted genomic | NC_000016.9:g.(153 95056_?)_(?_182009 33)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 15,395,056 | - | - | 18,200,933 |