nsv3892794
- 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:442,119
- Description:GRCh38/hg38 2q22.1(chr2:137028226-137470344)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: 1259 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1259 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 274 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3892794 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 137,028,226 | 137,470,344 |
| nsv3892794 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 137,785,796 | 138,227,914 |
| nsv3892794 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 137,502,266 | 137,944,384 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137809 | copy number loss | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000142555.5, VCV000154488.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137809 | Submitted genomic | NC_000002.12:g.(?_ 137028226)_(137470 344_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 137,028,226 | 137,470,344 |
| nssv15137809 | Submitted genomic | NC_000002.11:g.(?_ 137785796)_(138227 914_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 137,785,796 | 138,227,914 |
| nssv15137809 | Submitted genomic | NC_000002.10:g.(?_ 137502266)_(137944 384_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 137,502,266 | 137,944,384 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137809 | GRCh37: NC_000002.11:g.(?_137785796)_(138227914_?)del, GRCh38: NC_000002.12:g.(?_137028226)_(137470344_?)del, NCBI36: NC_000002.10:g.(?_137502266)_(137944384_?)del | copy number loss | maternal | See cases | Likely benign | ClinVar | RCV000142555.5, VCV000154488.2 | 1 |