nsv3919729
- 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:2,232
- Description:GRCh38/hg38 17q24.3(chr17:72120958-72123189)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: 80 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 80 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 16 SVs from 4 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919729 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 72,120,958 | 72,123,189 |
| nsv3919729 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 70,117,099 | 70,119,330 |
| nsv3919729 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 67,628,694 | 67,630,925 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15122704 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000141103.3, VCV000152566.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15122704 | Submitted genomic | NC_000017.11:g.(?_ 72120958)_(7212318 9_?)dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 72,120,958 | 72,123,189 |
| nssv15122704 | Submitted genomic | NC_000017.10:g.(?_ 70117099)_(7011933 0_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 70,117,099 | 70,119,330 |
| nssv15122704 | Submitted genomic | NC_000017.9:g.(?_6 7628694)_(67630925 _?)dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 67,628,694 | 67,630,925 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15122704 | GRCh37: NC_000017.10:g.(?_70117099)_(70119330_?)dup, GRCh38: NC_000017.11:g.(?_72120958)_(72123189_?)dup, NCBI36: NC_000017.9:g.(?_67628694)_(67630925_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000141103.3, VCV000152566.1 | 3 |