nsv4687373
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:mobile element insertion
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:esv3839034 from 1000 Genomes Consortium Phase 3 Integrated SV and nsv4478247 from gnomAD Structural Variants. 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: 241 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 241 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4687373 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 7,479,260 | 7,479,260 |
| nsv4687373 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 7,479,373 | 7,479,373 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16222467 | alu insertion | Curated | Curated |
| nssv16232622 | alu insertion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16222467 | Remapped | Perfect | NC_000005.10:g.747 9260_7479261ins? | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 7,479,260 | 7,479,260 |
| nssv16232622 | Remapped | Perfect | NC_000005.10:g.747 9260_7479261ins? | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 7,479,260 | 7,479,260 |
| nssv16222467 | Submitted genomic | NC_000005.9:g.7479 373_7479374ins? | GRCh37 (hg19) | NC_000005.9 | Chr5 | 7,479,373 | 7,479,373 | ||
| nssv16232622 | Submitted genomic | NC_000005.9:g.7479 373_7479374ins? | GRCh37 (hg19) | NC_000005.9 | Chr5 | 7,479,373 | 7,479,373 |
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) |
|---|---|---|---|
| nssv16222467 | 0.019 | 411 | 21604 |
| nssv16232622 | 0.011 | 56 | 5008 |