nsv6295004
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:mobile element insertion
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:52
- Description:nsv5402055 from Byrska-Bishop et. al 2021. 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: 74 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 74 SVs from 18 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6295004 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 32,448,297 | 32,448,348 |
nsv6295004 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 32,489,789 | 32,489,840 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17662318 | alu insertion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17662318 | Remapped | Perfect | NC_000003.12:g.324 48297_32448348ins? | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 32,448,297 | 32,448,348 |
nssv17662318 | Submitted genomic | NC_000003.11:g.324 89789_32489840ins? | GRCh37 (hg19) | NC_000003.11 | Chr3 | 32,489,789 | 32,489,840 |
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) |
---|---|---|---|
nssv17662318 | 0.025 | 161 | 6396 |