nsv3914969
- 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:1,945
- Description:GRCh38/hg38 17q24.3(chr17:72122288-72124232)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: 79 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 79 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 |
|---|---|---|---|---|---|---|---|
| nsv3914969 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 72,122,288 | 72,124,232 |
| nsv3914969 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 70,118,429 | 70,120,373 |
| nsv3914969 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 67,630,024 | 67,631,968 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15122488 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000140288.3, VCV000151583.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15122488 | Submitted genomic | NC_000017.11:g.(?_ 72122288)_(7212423 2_?)dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 72,122,288 | 72,124,232 |
| nssv15122488 | Submitted genomic | NC_000017.10:g.(?_ 70118429)_(7012037 3_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 70,118,429 | 70,120,373 |
| nssv15122488 | Submitted genomic | NC_000017.9:g.(?_6 7630024)_(67631968 _?)dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 67,630,024 | 67,631,968 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15122488 | GRCh37: NC_000017.10:g.(?_70118429)_(70120373_?)dup, GRCh38: NC_000017.11:g.(?_72122288)_(72124232_?)dup, NCBI36: NC_000017.9:g.(?_67630024)_(67631968_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000140288.3, VCV000151583.1 | 3 |