nsv3898402
- 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:790,411
- Description:
GRCh38/hg38 2p15(chr2:61515438-62305848)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: 2405 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 2405 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 549 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3898402 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 61,515,438 | 62,305,848 |
| nsv3898402 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 61,742,573 | 62,532,983 |
| nsv3898402 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 61,596,077 | 62,386,487 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15122009 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000054053.4, VCV000060179.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15122009 | Submitted genomic | NC_000002.12:g.(?_ 61515438)_(6230584 8_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 61,515,438 | 62,305,848 |
| nssv15122009 | Submitted genomic | NC_000002.11:g.(?_ 61742573)_(6253298 3_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 61,742,573 | 62,532,983 |
| nssv15122009 | Submitted genomic | NC_000002.10:g.(?_ 61596077)_(6238648 7_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 61,596,077 | 62,386,487 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15122009 | GRCh37: NC_000002.11:g.(?_61742573)_(62532983_?)del, GRCh38: NC_000002.12:g.(?_61515438)_(62305848_?)del, NCBI36: NC_000002.10:g.(?_61596077)_(62386487_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000054053.4, VCV000060179.1 | 1 |