nsv5386268
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:637
- Description:nsv4959696 from Abel et. al 2020. 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: 216 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 216 SVs from 48 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5386268 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 23,549,710 | 23,550,346 |
| nsv5386268 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 23,407,223 | 23,407,859 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16873255 | deletion | Curated | Curated |
| nssv16877072 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16873255 | Remapped | Perfect | NC_000008.11:g.235 49710_23550346del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 23,549,710 | 23,550,346 |
| nssv16877072 | Remapped | Perfect | NC_000008.11:g.235 49710_23550346del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 23,549,710 | 23,550,346 |
| nssv16873255 | Submitted genomic | NC_000008.10:g.234 07223_23407859del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 23,407,223 | 23,407,859 | ||
| nssv16877072 | Submitted genomic | NC_000008.10:g.234 07223_23407859del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 23,407,223 | 23,407,859 |
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) |
|---|---|---|---|
| nssv16873255 | 0.228 | 6669 | 29246 |
| nssv16877072 | 0.25 | 4204 | 16834 |