nsv3924398
- 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:87,255
- Description:GRCh38/hg38 17q25.3(chr17:78338863-78426117)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: 369 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 369 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 123 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 |
|---|---|---|---|---|---|---|---|
| nsv3924398 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 78,338,863 | 78,426,117 |
| nsv3924398 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 76,334,944 | 76,422,198 |
| nsv3924398 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 73,846,539 | 73,933,793 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15131784 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000054048.5, VCV000060174.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15131784 | Submitted genomic | NC_000017.11:g.(?_ 78338863)_(7842611 7_?)dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 78,338,863 | 78,426,117 |
| nssv15131784 | Submitted genomic | NC_000017.10:g.(?_ 76334944)_(7642219 8_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 76,334,944 | 76,422,198 |
| nssv15131784 | Submitted genomic | NC_000017.9:g.(?_7 3846539)_(73933793 _?)dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 73,846,539 | 73,933,793 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15131784 | GRCh37: NC_000017.10:g.(?_76334944)_(76422198_?)dup, GRCh38: NC_000017.11:g.(?_78338863)_(78426117_?)dup, NCBI36: NC_000017.9:g.(?_73846539)_(73933793_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000054048.5, VCV000060174.1 | 3 |