nsv3922944
- 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:1,854,631
- Description:GRCh38/hg38 17p11.2(chr17:19744033-21598663)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: 6060 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 5887 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 1528 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922944 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 19,744,033 | 21,598,663 |
| nsv3922944 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 19,647,346 | 21,501,929 |
| nsv3922944 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 19,587,938 | 21,442,522 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137871 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000142733.4, VCV000154666.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137871 | Submitted genomic | NC_000017.11:g.(?_ 19744033)_(2159866 3_?)dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 19,744,033 | 21,598,663 |
| nssv15137871 | Submitted genomic | NC_000017.10:g.(?_ 19647346)_(2150192 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 19,647,346 | 21,501,929 |
| nssv15137871 | Submitted genomic | NC_000017.9:g.(?_1 9587938)_(21442522 _?)dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 19,587,938 | 21,442,522 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137871 | GRCh37: NC_000017.10:g.(?_19647346)_(21501929_?)dup, GRCh38: NC_000017.11:g.(?_19744033)_(21598663_?)dup, NCBI36: NC_000017.9:g.(?_19587938)_(21442522_?)dup | copy number gain | tested-inconclusive | See cases | Uncertain significance | ClinVar | RCV000142733.4, VCV000154666.2 | 3 |