nsv3906029
- 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:7,995,891
- Description:GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)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: 23168 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 23141 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 5565 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3906029 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 227,343,278 | 235,339,168 |
| nsv3906029 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 228,207,994 | 236,247,812 |
| nsv3906029 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 227,916,238 | 235,912,551 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132217 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052638.6, VCV000058848.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132217 | Submitted genomic | NC_000002.12:g.(?_ 227343278)_(235339 168_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 227,343,278 | 235,339,168 |
| nssv15132217 | Submitted genomic | NC_000002.11:g.(?_ 228207994)_(236247 812_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 228,207,994 | 236,247,812 |
| nssv15132217 | Submitted genomic | NC_000002.10:g.(?_ 227916238)_(235912 551_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 227,916,238 | 235,912,551 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132217 | GRCh37: NC_000002.11:g.(?_228207994)_(236247812_?)del, GRCh38: NC_000002.12:g.(?_227343278)_(235339168_?)del, NCBI36: NC_000002.10:g.(?_227916238)_(235912551_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000052638.6, VCV000058848.1 | 1 |