nsv6127764
- 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:3,685
- Description:nsv5514291 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: 309 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 239 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 359 SVs from 61 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6127764 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000017.11 | Chr17 | 37,418,621 | 37,422,284 |
| nsv6127764 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 1,657,771 | 1,661,455 |
| nsv6127764 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 35,778,706 | 35,782,390 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17957961 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17957961 | Remapped | Perfect | NT_187614.1:g.1657 771_1661455del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 1,657,771 | 1,661,455 |
| nssv17957961 | Remapped | Good | NC_000017.11:g.374 18621_37422284del | GRCh38.p12 | Second Pass | NC_000017.11 | Chr17 | 37,418,621 | 37,422,284 |
| nssv17957961 | Submitted genomic | NC_000017.10:g.357 78706_35782390del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 35,778,706 | 35,782,390 |
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) |
|---|---|---|---|
| nssv17957961 | 0.129 | 828 | 6404 |