nsv3917059
- 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:12,181,886
- Description:GRCh38/hg38 17p13.3-12(chr17:162016-12343901)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: 50098 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 47060 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 12135 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917059 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 162,016 | 12,343,901 |
| nsv3917059 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 45,835 | 12,247,218 |
| nsv3917059 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 11,807 | 12,187,943 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145907 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138531.6, VCV000149531.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145907 | Submitted genomic | NC_000017.11:g.(?_ 162016)_(12343901_ ?)dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 162,016 | 12,343,901 |
| nssv15145907 | Submitted genomic | NC_000017.10:g.(?_ 45835)_(12247218_? )dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 45,835 | 12,247,218 |
| nssv15145907 | Submitted genomic | NC_000017.9:g.(?_1 1807)_(12187943_?) dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 11,807 | 12,187,943 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145907 | GRCh37: NC_000017.10:g.(?_45835)_(12247218_?)dup, GRCh38: NC_000017.11:g.(?_162016)_(12343901_?)dup, NCBI36: NC_000017.9:g.(?_11807)_(12187943_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000138531.6, VCV000149531.2 | 3 |