nsv3418783
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Audano et al. 2019
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: 412 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 412 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3418783 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 105,307,660 | 105,307,660 | ||
nsv3418783 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 104,552,344 | 104,552,344 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14809083 | insertion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14809083 | Submitted genomic | NC_000023.11:g.105 307660_105307661in s248 | GRCh38 (hg38) | NC_000023.11 | ChrX | 105,307,660 | 105,307,660 | ||
nssv14809083 | Remapped | Perfect | NC_000023.10:g.104 552344_104552345in s248NC_000023.10:g .104552344_1045523 45ins248 | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 104,552,344 | 104,552,344 |