nsv3916209
- 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:1,899,471
- Description:GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1 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: 7080 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 7085 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 1687 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916209 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 4,044,302 | 5,943,772 |
| nsv3916209 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 3,947,596 | 5,847,092 |
| nsv3916209 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 3,894,345 | 5,787,816 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134167 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000135548.5, VCV000146235.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134167 | Submitted genomic | NC_000017.11:g.(?_ 4044302)_(5943772_ ?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 4,044,302 | 5,943,772 |
| nssv15134167 | Submitted genomic | NC_000017.10:g.(?_ 3947596)_(5847092_ ?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,947,596 | 5,847,092 |
| nssv15134167 | Submitted genomic | NC_000017.9:g.(?_3 894345)_(5787816_? )del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 3,894,345 | 5,787,816 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134167 | GRCh37: NC_000017.10:g.(?_3947596)_(5847092_?)del, GRCh38: NC_000017.11:g.(?_4044302)_(5943772_?)del, NCBI36: NC_000017.9:g.(?_3894345)_(5787816_?)del | copy number loss | de novo | See cases | Likely pathogenic | ClinVar | RCV000135548.5, VCV000146235.2 | 1 |