nsv4490279
- Organism: Homo sapiens
- Study:nstd166 (gnomAD Structural Variants)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):gnomAD_Structural_Variants
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: 41 SVs from 8 studies. See in: genome view
Overlapping variant regions from other studies: 41 SVs from 8 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4490279 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 121,331,492 | 121,331,492 |
nsv4490279 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000007.13 | Chr7 | 120,971,546 | 120,971,546 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16076940 | alu insertion | Sequencing | Other |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16076940 | Remapped | Perfect | NC_000007.14:g.121 331492_121331493in s280 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 121,331,492 | 121,331,492 |
nssv16076940 | Submitted genomic | NC_000007.13:g.120 971546_120971547in s280 | GRCh37.p13 | NC_000007.13 | Chr7 | 120,971,546 | 120,971,546 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
---|---|---|---|
nssv16076940 | 0.002 | 33 | 21670 |