nsv6292284
- 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:nsv5403366 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: 672 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 55 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 669 SVs from 73 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6292284 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 76,704,753 | 76,704,804 |
| nsv6292284 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187561.1 | Chr7|NT_18 7561.1 | 191,588 | 191,639 |
| nsv6292284 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 76,334,070 | 76,334,121 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17652021 | alu insertion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17652021 | Remapped | Perfect | NT_187561.1:g.1915 88_191639ins? | GRCh38.p12 | Second Pass | NT_187561.1 | Chr7|NT_18 7561.1 | 191,588 | 191,639 |
| nssv17652021 | Remapped | Perfect | NC_000007.14:g.767 04753_76704804ins? | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,704,753 | 76,704,804 |
| nssv17652021 | Submitted genomic | NC_000007.13:g.763 34070_76334121ins? | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,334,070 | 76,334,121 |
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) |
|---|---|---|---|
| nssv17652021 | 0.024 | 152 | 6404 |