nsv5392014
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3,396
- Description:nsv5038854 from Abel et. al 2020 and nsv5553378 from Byrska-Bishop et. al 2021. For a full list of variants now included in nstd186, refer to the mapping file provided here.
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1034 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 324 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 1034 SVs from 69 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5392014 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 22,563,654 | 22,567,049 |
| nsv5392014 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187629.1 | Chr22|NT_1 87629.1 | 199,311 | 202,706 |
| nsv5392014 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 22,906,059 | 22,909,454 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16867635 | deletion | Curated | Curated |
| nssv16880304 | deletion | Curated | Curated |
| nssv17960285 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16867635 | Remapped | Perfect | NT_187629.1:g.1993 11_202706del | GRCh38.p12 | Second Pass | NT_187629.1 | Chr22|NT_1 87629.1 | 199,311 | 202,706 |
| nssv16880304 | Remapped | Perfect | NT_187629.1:g.1993 11_202706del | GRCh38.p12 | Second Pass | NT_187629.1 | Chr22|NT_1 87629.1 | 199,311 | 202,706 |
| nssv17960285 | Remapped | Perfect | NT_187629.1:g.1993 11_202706del | GRCh38.p12 | Second Pass | NT_187629.1 | Chr22|NT_1 87629.1 | 199,311 | 202,706 |
| nssv16867635 | Remapped | Perfect | NC_000022.11:g.225 63654_22567049del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 22,563,654 | 22,567,049 |
| nssv16880304 | Remapped | Perfect | NC_000022.11:g.225 63654_22567049del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 22,563,654 | 22,567,049 |
| nssv17960285 | Remapped | Perfect | NC_000022.11:g.225 63654_22567049del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 22,563,654 | 22,567,049 |
| nssv16867635 | Submitted genomic | NC_000022.10:g.229 06059_22909454del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,906,059 | 22,909,454 | ||
| nssv16880304 | Submitted genomic | NC_000022.10:g.229 06059_22909454del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,906,059 | 22,909,454 | ||
| nssv17960285 | Submitted genomic | NC_000022.10:g.229 06059_22909454del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,906,059 | 22,909,454 |
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) |
|---|---|---|---|
| nssv16867635 | 0.035 | 596 | 16828 |
| nssv16880304 | 0.031 | 902 | 29238 |
| nssv17960285 | 0.025 | 159 | 6404 |