nsv4743876
- 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:61
- 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: 236 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 10 SVs from 8 studies. See in: genome view
Overlapping variant regions from other studies: 236 SVs from 29 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4743876 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 154,431,442 | 154,431,502 |
nsv4743876 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_012132919.1 | Chr7|NW_01 2132919.1 | 9,091 | 9,151 |
nsv4743876 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 154,128,527 | 154,128,587 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16275092 | deletion | Sequencing | Split read mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16275092 | Remapped | Perfect | NW_012132919.1:g.9 091_9151del | GRCh38.p12 | Second Pass | NW_012132919.1 | Chr7|NW_01 2132919.1 | 9,091 | 9,151 |
nssv16275092 | Remapped | Perfect | NC_000007.14:g.154 431442_154431502de l | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 154,431,442 | 154,431,502 |
nssv16275092 | Submitted genomic | NC_000007.13:g.154 128527_154128587de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 154,128,527 | 154,128,587 |