nsv3915639
- 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:7,859
- Description:GRCh38/hg38 17p11.2(chr17:16195853-16203711)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: 135 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 135 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 39 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915639 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 16,195,853 | 16,203,711 |
| nsv3915639 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 16,099,167 | 16,107,025 |
| nsv3915639 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 16,039,892 | 16,047,750 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15122200 | copy number gain | Multiple | Multiple | See cases | conflicting data from submitters | ClinVar | RCV000141104.3, VCV000152567.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15122200 | Submitted genomic | NC_000017.11:g.(?_ 16195853)_(1620371 1_?)dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 16,195,853 | 16,203,711 |
| nssv15122200 | Submitted genomic | NC_000017.10:g.(?_ 16099167)_(1610702 5_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 16,099,167 | 16,107,025 |
| nssv15122200 | Submitted genomic | NC_000017.9:g.(?_1 6039892)_(16047750 _?)dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 16,039,892 | 16,047,750 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15122200 | GRCh37: NC_000017.10:g.(?_16099167)_(16107025_?)dup, GRCh38: NC_000017.11:g.(?_16195853)_(16203711_?)dup, NCBI36: NC_000017.9:g.(?_16039892)_(16047750_?)dup | copy number gain | not provided | See cases | conflicting data from submitters | ClinVar | RCV000141104.3, VCV000152567.1 | 3 |