nsv3915657
- 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:25,360
- Description:GRCh38/hg38 17p13.3(chr17:2599570-2624929)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: 167 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 167 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 75 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915657 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 2,599,570 | 2,624,929 |
| nsv3915657 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 2,502,864 | 2,528,223 |
| nsv3915657 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 2,449,614 | 2,474,973 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136192 | copy number gain | Multiple | Multiple | See cases | Conflicting interpretations of pathogenicity | ClinVar | RCV000136692.6, VCV000147515.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136192 | Submitted genomic | NC_000017.11:g.(?_ 2599570)_(2624929_ ?)dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 2,599,570 | 2,624,929 |
| nssv15136192 | Submitted genomic | NC_000017.10:g.(?_ 2502864)_(2528223_ ?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 2,502,864 | 2,528,223 |
| nssv15136192 | Submitted genomic | NC_000017.9:g.(?_2 449614)_(2474973_? )dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 2,449,614 | 2,474,973 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136192 | GRCh37: NC_000017.10:g.(?_2502864)_(2528223_?)dup, GRCh38: NC_000017.11:g.(?_2599570)_(2624929_?)dup, NCBI36: NC_000017.9:g.(?_2449614)_(2474973_?)dup | copy number gain | see ClinVar for details | See cases | Conflicting interpretations of pathogenicity | ClinVar | RCV000136692.6, VCV000147515.3 | 3 |