nsv3920056
- 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:1,102,294
- Description:GRCh38/hg38 17q21.32-21.33(chr17:48450628-49552921)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: 3606 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 3606 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 855 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920056 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 48,450,628 | 49,552,921 |
| nsv3920056 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 46,527,990 | 47,630,283 |
| nsv3920056 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 43,882,989 | 44,985,282 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148247 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000143451.4, VCV000155384.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148247 | Submitted genomic | NC_000017.11:g.(?_ 48450628)_(4955292 1_?)dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 48,450,628 | 49,552,921 |
| nssv15148247 | Submitted genomic | NC_000017.10:g.(?_ 46527990)_(4763028 3_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 46,527,990 | 47,630,283 |
| nssv15148247 | Submitted genomic | NC_000017.9:g.(?_4 3882989)_(44985282 _?)dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 43,882,989 | 44,985,282 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148247 | GRCh37: NC_000017.10:g.(?_46527990)_(47630283_?)dup, GRCh38: NC_000017.11:g.(?_48450628)_(49552921_?)dup, NCBI36: NC_000017.9:g.(?_43882989)_(44985282_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000143451.4, VCV000155384.2 | 3 |