nsv3922421
- 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:62,526
- Description:GRCh38/hg38 17q21.32(chr17:47522632-47585157)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: 378 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 378 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 76 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922421 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 47,522,632 | 47,585,157 |
| nsv3922421 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 45,599,998 | 45,662,523 |
| nsv3922421 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 42,954,997 | 43,017,522 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121582 | copy number gain | Multiple | Multiple | See cases | Benign/Likely benign | ClinVar | RCV000134470.4, VCV000145068.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121582 | Submitted genomic | NC_000017.11:g.(?_ 47522632)_(4758515 7_?)dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 47,522,632 | 47,585,157 |
| nssv15121582 | Submitted genomic | NC_000017.10:g.(?_ 45599998)_(4566252 3_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 45,599,998 | 45,662,523 |
| nssv15121582 | Submitted genomic | NC_000017.9:g.(?_4 2954997)_(43017522 _?)dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 42,954,997 | 43,017,522 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121582 | GRCh37: NC_000017.10:g.(?_45599998)_(45662523_?)dup, GRCh38: NC_000017.11:g.(?_47522632)_(47585157_?)dup, NCBI36: NC_000017.9:g.(?_42954997)_(43017522_?)dup | copy number gain | not provided | See cases | Benign/Likely benign | ClinVar | RCV000134470.4, VCV000145068.1 | 3 |