nsv3914333
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,009,126
- Description:
See descriptions for individual calls in download files
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2303 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 2307 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 872 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914333 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 69,942,850 | 70,951,975 |
| nsv3914333 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 69,238,677 | 70,247,802 |
| nsv3914333 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 69,274,433 | 70,283,558 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15119422 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000133906.4, VCV000144424.2 | 3 |
| nssv15131936 | copy number loss | Multiple | Multiple | See cases | Benign | ClinVar | RCV000133907.4, VCV000144425.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15119422 | Submitted genomic | NC_000005.10:g.(?_ 69942850)_(7095197 5_?)dup | GRCh38 (hg38) | NC_000005.10 | Chr5 | 69,942,850 | 70,951,975 |
| nssv15131936 | Submitted genomic | NC_000005.10:g.(?_ 69942850)_(7095197 5_?)del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 69,942,850 | 70,951,975 |
| nssv15119422 | Submitted genomic | NC_000005.9:g.(?_6 9238677)_(70247802 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 69,238,677 | 70,247,802 |
| nssv15131936 | Submitted genomic | NC_000005.9:g.(?_6 9238677)_(70247802 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 69,238,677 | 70,247,802 |
| nssv15119422 | Submitted genomic | NC_000005.8:g.(?_6 9274433)_(70283558 _?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 69,274,433 | 70,283,558 |
| nssv15131936 | Submitted genomic | NC_000005.8:g.(?_6 9274433)_(70283558 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 69,274,433 | 70,283,558 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15119422 | GRCh37: NC_000005.9:g.(?_69238677)_(70247802_?)dup, GRCh38: NC_000005.10:g.(?_69942850)_(70951975_?)dup, NCBI36: NC_000005.8:g.(?_69274433)_(70283558_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000133906.4, VCV000144424.2 | 3 |
| nssv15131936 | GRCh37: NC_000005.9:g.(?_69238677)_(70247802_?)del, GRCh38: NC_000005.10:g.(?_69942850)_(70951975_?)del, NCBI36: NC_000005.8:g.(?_69274433)_(70283558_?)del | copy number loss | not provided | See cases | Benign | ClinVar | RCV000133907.4, VCV000144425.2 | 1 |