nsv3921186
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:16,883,105
- Description:GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 49264 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 49265 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 11999 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921186 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 164,386,701 | 181,269,805 |
| nsv3921186 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 163,813,707 | 180,696,806 |
| nsv3921186 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 163,746,285 | 180,629,412 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134166 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135546.6, VCV000146233.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134166 | Submitted genomic | NC_000005.10:g.(?_ 164386701)_(181269 805_?)dup | GRCh38 (hg38) | NC_000005.10 | Chr5 | 164,386,701 | 181,269,805 |
| nssv15134166 | Submitted genomic | NC_000005.9:g.(?_1 63813707)_(1806968 06_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 163,813,707 | 180,696,806 |
| nssv15134166 | Submitted genomic | NC_000005.8:g.(?_1 63746285)_(1806294 12_?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 163,746,285 | 180,629,412 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134166 | GRCh37: NC_000005.9:g.(?_163813707)_(180696806_?)dup, GRCh38: NC_000005.10:g.(?_164386701)_(181269805_?)dup, NCBI36: NC_000005.8:g.(?_163746285)_(180629412_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000135546.6, VCV000146233.2 | 3 |