nsv3899721
- 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:14,552,371
- Description:GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)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: 33970 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 33974 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 9236 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3899721 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 52,787,503 | 67,339,873 |
| nsv3899721 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 53,253,175 | 67,805,556 |
| nsv3899721 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 53,025,763 | 67,578,144 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145992 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000141758.4, VCV000153325.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145992 | Submitted genomic | NC_000001.11:g.(?_ 52787503)_(6733987 3_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 52,787,503 | 67,339,873 |
| nssv15145992 | Submitted genomic | NC_000001.10:g.(?_ 53253175)_(6780555 6_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 53,253,175 | 67,805,556 |
| nssv15145992 | Submitted genomic | NC_000001.9:g.(?_5 3025763)_(67578144 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 53,025,763 | 67,578,144 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145992 | GRCh37: NC_000001.10:g.(?_53253175)_(67805556_?)dup, GRCh38: NC_000001.11:g.(?_52787503)_(67339873_?)dup, NCBI36: NC_000001.9:g.(?_53025763)_(67578144_?)dup | copy number gain | not provided | See cases | Likely pathogenic | ClinVar | RCV000141758.4, VCV000153325.2 | 3 |