nsv3896706
- 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:2,930,738
- Description:GRCh38/hg38 2q12.1-12.3(chr2:104381722-107312459)x1 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: 6744 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 6744 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 1754 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3896706 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 104,381,722 | 107,312,459 |
| nsv3896706 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 104,998,180 | 107,928,915 |
| nsv3896706 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 104,364,612 | 107,295,347 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148032 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000135282.5, VCV000145956.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148032 | Submitted genomic | NC_000002.12:g.(?_ 104381722)_(107312 459_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 104,381,722 | 107,312,459 |
| nssv15148032 | Submitted genomic | NC_000002.11:g.(?_ 104998180)_(107928 915_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 104,998,180 | 107,928,915 |
| nssv15148032 | Submitted genomic | NC_000002.10:g.(?_ 104364612)_(107295 347_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 104,364,612 | 107,295,347 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148032 | GRCh37: NC_000002.11:g.(?_104998180)_(107928915_?)del, GRCh38: NC_000002.12:g.(?_104381722)_(107312459_?)del, NCBI36: NC_000002.10:g.(?_104364612)_(107295347_?)del | copy number loss | not provided | See cases | Likely pathogenic | ClinVar | RCV000135282.5, VCV000145956.1 | 1 |