nsv3909912
- 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:906,517
- Description:GRCh38/hg38 17q12(chr17:33642695-34549211)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: 2114 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 2114 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 560 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3909912 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 33,642,695 | 34,549,211 |
| nsv3909912 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 31,969,714 | 32,876,230 |
| nsv3909912 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 28,993,827 | 29,900,343 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15119953 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000054013.5, VCV000060139.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15119953 | Submitted genomic | NC_000017.11:g.(?_ 33642695)_(3454921 1_?)dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 33,642,695 | 34,549,211 |
| nssv15119953 | Submitted genomic | NC_000017.10:g.(?_ 31969714)_(3287623 0_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 31,969,714 | 32,876,230 |
| nssv15119953 | Submitted genomic | NC_000017.9:g.(?_2 8993827)_(29900343 _?)dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 28,993,827 | 29,900,343 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15119953 | GRCh37: NC_000017.10:g.(?_31969714)_(32876230_?)dup, GRCh38: NC_000017.11:g.(?_33642695)_(34549211_?)dup, NCBI36: NC_000017.9:g.(?_28993827)_(29900343_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000054013.5, VCV000060139.1 | 3 |