nsv4737114
- 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:9,357
- 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: 178 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 46 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 178 SVs from 44 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4737114 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 103,150,741 | 103,160,097 |
nsv4737114 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187559.1 | Chr7|NT_18 7559.1 | 84,665 | 93,986 |
nsv4737114 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 102,791,188 | 102,800,544 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16270519 | deletion | Sequencing | Split read mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16270519 | Remapped | Good | NT_187559.1:g.8466 5_93986del | GRCh38.p12 | Second Pass | NT_187559.1 | Chr7|NT_18 7559.1 | 84,665 | 93,986 |
nssv16270519 | Remapped | Perfect | NC_000007.14:g.103 150741_103160097de l | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 103,150,741 | 103,160,097 |
nssv16270519 | Submitted genomic | NC_000007.13:g.102 791188_102800544de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 102,791,188 | 102,800,544 |