nsv3896048
- 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:923,851
- Description:GRCh38/hg38 2q11.1(chr2:94751190-95675040)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: 1754 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 1139 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 384 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 |
|---|---|---|---|---|---|---|---|
| nsv3896048 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 94,751,190 | 95,675,040 |
| nsv3896048 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 95,618,109 | 96,340,788 |
| nsv3896048 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 94,780,662 | 95,704,515 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137094 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000137332.4, VCV000148257.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137094 | Submitted genomic | NC_000002.12:g.(?_ 94751190)_(9567504 0_?)dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 94,751,190 | 95,675,040 |
| nssv15137094 | Submitted genomic | NC_000002.11:g.(?_ 95618109)_(9634078 8_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 95,618,109 | 96,340,788 |
| nssv15137094 | Submitted genomic | NC_000002.10:g.(?_ 94780662)_(9570451 5_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 94,780,662 | 95,704,515 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137094 | GRCh37: NC_000002.11:g.(?_95618109)_(96340788_?)dup, GRCh38: NC_000002.12:g.(?_94751190)_(95675040_?)dup, NCBI36: NC_000002.10:g.(?_94780662)_(95704515_?)dup | copy number gain | paternal | See cases | Likely benign | ClinVar | RCV000137332.4, VCV000148257.2 | 3 |