nsv4732420
- Organism: Homo sapiens
- Study:nstd199 (Quan 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:232,252
- Publication(s):Quan et al. 2021
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: 1930 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 596 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 1943 SVs from 91 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4732420 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 10,334,869 | 10,567,120 |
nsv4732420 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_011332699.1 | Chr13|NW_0 11332699.1 | 1 | 169,908 |
nsv4732420 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 10,945,337 | 11,177,588 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16268747 | deletion | Sequencing | Split read mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16268747 | Remapped | Pass | NW_011332699.1:g.1 _169908del | GRCh38.p12 | Second Pass | NW_011332699.1 | Chr13|NW_0 11332699.1 | 1 | 169,908 |
nssv16268747 | Remapped | Perfect | NC_000021.9:g.1033 4869_10567120del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,334,869 | 10,567,120 |
nssv16268747 | Submitted genomic | NC_000021.8:g.1094 5337_11177588del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,945,337 | 11,177,588 |