nsv4767558
- 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: 230 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 55 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 228 SVs from 44 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4767558 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 41,054,897 | 41,054,897 |
nsv4767558 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003871091.1 | Chr17|NW_0 03871091.1 | 204,395 | 204,395 |
nsv4767558 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 39,211,149 | 39,211,149 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16291212 | insertion | Sequencing | Split read mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16291212 | Remapped | Perfect | NW_003871091.1:g.2 04395_204396ins96 | GRCh38.p12 | Second Pass | NW_003871091.1 | Chr17|NW_0 03871091.1 | 204,395 | 204,395 |
nssv16291212 | Remapped | Perfect | NC_000017.11:g.410 54897_41054898ins9 6 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 41,054,897 | 41,054,897 |
nssv16291212 | Submitted genomic | NC_000017.10:g.392 11149_39211150ins9 6 | GRCh37 (hg19) | NC_000017.10 | Chr17 | 39,211,149 | 39,211,149 |