nsv4731217
- 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:89
- 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: 257 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 22 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 257 SVs from 41 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4731217 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 154,443,606 | 154,443,694 |
nsv4731217 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_012132919.1 | Chr7|NW_01 2132919.1 | 21,255 | 21,343 |
nsv4731217 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 154,140,691 | 154,140,779 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16291893 | deletion | Sequencing | Split read mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16291893 | Remapped | Perfect | NW_012132919.1:g.2 1255_21343del | GRCh38.p12 | Second Pass | NW_012132919.1 | Chr7|NW_01 2132919.1 | 21,255 | 21,343 |
nssv16291893 | Remapped | Perfect | NC_000007.14:g.154 443606_154443694de l | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 154,443,606 | 154,443,694 |
nssv16291893 | Submitted genomic | NC_000007.13:g.154 140691_154140779de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 154,140,691 | 154,140,779 |