nsv4690823
- 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:1
- Description:esv3850025 from 1000 Genomes Consortium Phase 3 Integrated SV. 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: 625 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 78 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 622 SVs from 71 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4690823 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 76,662,521 | 76,662,521 |
| nsv4690823 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187561.1 | Chr7|NT_18 7561.1 | 149,356 | 149,356 |
| nsv4690823 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 76,291,838 | 76,291,838 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16224483 | alu insertion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16224483 | Remapped | Perfect | NT_187561.1:g.1493 56_149357ins? | GRCh38.p12 | Second Pass | NT_187561.1 | Chr7|NT_18 7561.1 | 149,356 | 149,356 |
| nssv16224483 | Remapped | Perfect | NC_000007.14:g.766 62521_76662522ins? | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,662,521 | 76,662,521 |
| nssv16224483 | Submitted genomic | NC_000007.13:g.762 91838_76291839ins? | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,291,838 | 76,291,838 |
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) |
|---|---|---|---|
| nssv16224483 | 0.023 | 115 | 5008 |