nsv4748483
- 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:2,210
- 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: 665 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 23 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 657 SVs from 66 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4748483 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 89,840,730 | 89,841,869 |
nsv4748483 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_012132915.1 | Chr2|NW_01 2132915.1 | 449,563 | 451,772 |
nsv4748483 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 89,879,540 | 89,880,679 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16296431 | duplication | Sequencing | Split read mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16296431 | Remapped | Pass | NW_012132915.1:g.4 49563_451772dup | GRCh38.p12 | Second Pass | NW_012132915.1 | Chr2|NW_01 2132915.1 | 449,563 | 451,772 |
nssv16296431 | Remapped | Perfect | NC_000002.12:g.898 40730_89841869dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,840,730 | 89,841,869 |
nssv16296431 | Submitted genomic | NC_000002.11:g.898 79540_89880679dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,879,540 | 89,880,679 |