nsv6123879
- 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:14,646
- Description:nsv5520952 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: 436 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 196 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 434 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6123879 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 45,497,980 | 45,512,625 |
| nsv6123879 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 188,135 | 202,780 |
| nsv6123879 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 43,575,346 | 43,589,991 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17958013 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17958013 | Remapped | Perfect | NT_187663.1:g.1881 35_202780del | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 188,135 | 202,780 |
| nssv17958013 | Remapped | Perfect | NC_000017.11:g.454 97980_45512625del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 45,497,980 | 45,512,625 |
| nssv17958013 | Submitted genomic | NC_000017.10:g.435 75346_43589991del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 43,575,346 | 43,589,991 |
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) |
|---|---|---|---|
| nssv17958013 | 0.068 | 436 | 6394 |