nsv4753481
- Organism: Homo sapiens
- Study:nstd199 (Quan et al. 2021)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- 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: 135 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 2 SVs from 1 studies. See in: genome view
Overlapping variant regions from other studies: 135 SVs from 25 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4753481 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 208,128,720 | 208,128,720 |
nsv4753481 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_018654710.1 | Chr2|NW_01 8654710.1 | 127,014 | 127,014 |
nsv4753481 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 208,993,444 | 208,993,444 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16266175 | insertion | Sequencing | Split read mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16266175 | Remapped | Perfect | NW_018654710.1:g.1 27014_127015ins302 | GRCh38.p12 | Second Pass | NW_018654710.1 | Chr2|NW_01 8654710.1 | 127,014 | 127,014 |
nssv16266175 | Remapped | Perfect | NC_000002.12:g.208 128720_208128721in s302 | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 208,128,720 | 208,128,720 |
nssv16266175 | Submitted genomic | NC_000002.11:g.208 993444_208993445in s302 | GRCh37 (hg19) | NC_000002.11 | Chr2 | 208,993,444 | 208,993,444 |