nsv3906497
- 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:4,186,718
- Description:GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)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: 10128 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 10131 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 2679 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3906497 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 207,058,886 | 211,245,603 |
| nsv3906497 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 207,923,610 | 212,110,328 |
| nsv3906497 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 207,631,855 | 211,818,573 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136737 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139325.4, VCV000150477.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136737 | Submitted genomic | NC_000002.12:g.(?_ 207058886)_(211245 603_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 207,058,886 | 211,245,603 |
| nssv15136737 | Submitted genomic | NC_000002.11:g.(?_ 207923610)_(212110 328_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 207,923,610 | 212,110,328 |
| nssv15136737 | Submitted genomic | NC_000002.10:g.(?_ 207631855)_(211818 573_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 207,631,855 | 211,818,573 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136737 | GRCh37: NC_000002.11:g.(?_207923610)_(212110328_?)del, GRCh38: NC_000002.12:g.(?_207058886)_(211245603_?)del, NCBI36: NC_000002.10:g.(?_207631855)_(211818573_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000139325.4, VCV000150477.2 | 1 |