nsv6302419
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:332
- Description:nsv5504086 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: 94 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 15 SVs from 10 studies. See in: genome view
Overlapping variant regions from other studies: 94 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6302419 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 47,683,695 | 47,684,026 |
| nsv6302419 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_019805496.1 | Chr11|NW_0 19805496.1 | 116,062 | 116,393 |
| nsv6302419 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 47,705,247 | 47,705,578 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17655970 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17655970 | Remapped | Perfect | NW_019805496.1:g.1 16062_116393del | GRCh38.p12 | Second Pass | NW_019805496.1 | Chr11|NW_0 19805496.1 | 116,062 | 116,393 |
| nssv17655970 | Remapped | Perfect | NC_000011.10:g.476 83695_47684026del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 47,683,695 | 47,684,026 |
| nssv17655970 | Submitted genomic | NC_000011.9:g.4770 5247_47705578del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 47,705,247 | 47,705,578 |
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) |
|---|---|---|---|
| nssv17655970 | 0.018 | 116 | 6388 |