nsv3914699
- 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:102,101
- Description:GRCh38/hg38 3q25.31(chr3:155388702-155490802)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: 275 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 275 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 44 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914699 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 155,388,702 | 155,490,802 |
| nsv3914699 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 155,106,491 | 155,208,591 |
| nsv3914699 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 156,589,185 | 156,691,285 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120032 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000134246.3, VCV000144842.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120032 | Submitted genomic | NC_000003.12:g.(?_ 155388702)_(155490 802_?)dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 155,388,702 | 155,490,802 |
| nssv15120032 | Submitted genomic | NC_000003.11:g.(?_ 155106491)_(155208 591_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 155,106,491 | 155,208,591 |
| nssv15120032 | Submitted genomic | NC_000003.10:g.(?_ 156589185)_(156691 285_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 156,589,185 | 156,691,285 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120032 | GRCh37: NC_000003.11:g.(?_155106491)_(155208591_?)dup, GRCh38: NC_000003.12:g.(?_155388702)_(155490802_?)dup, NCBI36: NC_000003.10:g.(?_156589185)_(156691285_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000134246.3, VCV000144842.1 | 3 |