nsv3900303
- 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:4,445,088
- Description:GRCh38/hg38 2q11.2-12.2(chr2:101234070-105679157)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: 9239 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 9239 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 2264 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 |
|---|---|---|---|---|---|---|---|
| nsv3900303 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 101,234,070 | 105,679,157 |
| nsv3900303 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 101,850,532 | 106,295,614 |
| nsv3900303 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 101,216,964 | 105,662,046 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139112 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142969.6, VCV000154902.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139112 | Submitted genomic | NC_000002.12:g.(?_ 101234070)_(105679 157_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 101,234,070 | 105,679,157 |
| nssv15139112 | Submitted genomic | NC_000002.11:g.(?_ 101850532)_(106295 614_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 101,850,532 | 106,295,614 |
| nssv15139112 | Submitted genomic | NC_000002.10:g.(?_ 101216964)_(105662 046_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 101,216,964 | 105,662,046 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139112 | GRCh37: NC_000002.11:g.(?_101850532)_(106295614_?)del, GRCh38: NC_000002.12:g.(?_101234070)_(105679157_?)del, NCBI36: NC_000002.10:g.(?_101216964)_(105662046_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000142969.6, VCV000154902.2 | 1 |