nsv4744934
- 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:62,830
- 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: 296 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 103 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 296 SVs from 54 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4744934 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 154,157,000 | 154,212,720 |
nsv4744934 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_017363814.1 | Chr4|NW_01 7363814.1 | 77,520 | 140,349 |
nsv4744934 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 155,078,152 | 155,133,872 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16285321 | deletion | Sequencing | Split read mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16285321 | Remapped | Pass | NW_017363814.1:g.7 7520_140349del | GRCh38.p12 | Second Pass | NW_017363814.1 | Chr4|NW_01 7363814.1 | 77,520 | 140,349 |
nssv16285321 | Remapped | Perfect | NC_000004.12:g.154 157000_154212720de l | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 154,157,000 | 154,212,720 |
nssv16285321 | Submitted genomic | NC_000004.11:g.155 078152_155133872de l | GRCh37 (hg19) | NC_000004.11 | Chr4 | 155,078,152 | 155,133,872 |