nsv5381868
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:mobile element deletion
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:354
- Description:nsv4775228 from Abel et. al 2020. For a full list of variants now included in nstd186, refer to the mapping file provided here.
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: 166 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 166 SVs from 43 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5381868 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 43,806,161 | 43,806,514 |
nsv5381868 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 44,380,297 | 44,380,650 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16871057 | alu deletion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16871057 | Remapped | Perfect | NC_000013.11:g.438 06161_43806514del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 43,806,161 | 43,806,514 |
nssv16871057 | Submitted genomic | NC_000013.10:g.443 80297_44380650del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 44,380,297 | 44,380,650 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
---|---|---|---|
nssv16871057 | 0.301 | 5064 | 16834 |