nsv3895293
- 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:20,651,423
- Description:GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)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: 49376 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 49377 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 13246 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3895293 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 177,874,070 | 198,525,492 |
| nsv3895293 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 178,738,797 | 199,390,216 |
| nsv3895293 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 178,447,043 | 199,098,461 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133598 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052559.4, VCV000058771.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133598 | Submitted genomic | NC_000002.12:g.(?_ 177874070)_(198525 492_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 177,874,070 | 198,525,492 |
| nssv15133598 | Submitted genomic | NC_000002.11:g.(?_ 178738797)_(199390 216_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 178,738,797 | 199,390,216 |
| nssv15133598 | Submitted genomic | NC_000002.10:g.(?_ 178447043)_(199098 461_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 178,447,043 | 199,098,461 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133598 | GRCh37: NC_000002.11:g.(?_178738797)_(199390216_?)del, GRCh38: NC_000002.12:g.(?_177874070)_(198525492_?)del, NCBI36: NC_000002.10:g.(?_178447043)_(199098461_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000052559.4, VCV000058771.1 | 1 |