nsv4745818
- 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:57
- 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: 283 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 33 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 283 SVs from 45 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4745818 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 21,141,757 | 21,141,813 |
nsv4745818 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_009646199.1 | Chr5|NW_00 9646199.1 | 43,411 | 43,467 |
nsv4745818 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 21,141,866 | 21,141,922 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16296012 | deletion | Sequencing | Split read mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16296012 | Remapped | Perfect | NW_009646199.1:g.4 3411_43467del | GRCh38.p12 | Second Pass | NW_009646199.1 | Chr5|NW_00 9646199.1 | 43,411 | 43,467 |
nssv16296012 | Remapped | Perfect | NC_000005.10:g.211 41757_21141813del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 21,141,757 | 21,141,813 |
nssv16296012 | Submitted genomic | NC_000005.9:g.2114 1866_21141922del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 21,141,866 | 21,141,922 |