nsv4757280
- 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: 433 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 29 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 416 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4757280 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 90,297,567 | 90,297,567 |
nsv4757280 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187524.1 | Chr2|NT_18 7524.1 | 104,956 | 104,956 |
nsv4757280 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 90,476,470 | 90,476,470 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16274708 | insertion | Sequencing | Split read mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16274708 | Remapped | Perfect | NT_187524.1:g.1049 56_104957ins460 | GRCh38.p12 | Second Pass | NT_187524.1 | Chr2|NT_18 7524.1 | 104,956 | 104,956 |
nssv16274708 | Remapped | Perfect | NC_000002.12:g.902 97567_90297568ins4 60 | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 90,297,567 | 90,297,567 |
nssv16274708 | Submitted genomic | NC_000002.11:g.904 76470_90476471ins4 60 | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,476,470 | 90,476,470 |