nsv3916826
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:15,892,603
- Description:NCBI36/hg18 11q23.3-25(chr11:118591021-134450446)x3 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: 41387 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 41399 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 11054 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv3916826 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 119,184,020 | 119,184,020 | 135,076,622 | - |
| nsv3916826 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 119,054,729 | 119,054,729 | 134,946,516 | - |
| nsv3916826 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 118,559,939 | 118,591,021 | 134,450,446 | 134,452,384 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15128281 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000453298.2, VCV000398693.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15128281 | Remapped | Good | NC_000011.10:g.(11 9184020_119184020) _(135076622_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 119,184,020 | 119,184,020 | 135,076,622 | - |
| nssv15128281 | Remapped | Good | NC_000011.9:g.(119 054729_119054729)_ (134946516_?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 119,054,729 | 119,054,729 | 134,946,516 | - |
| nssv15128281 | Submitted genomic | NC_000011.8:g.(118 559939_118591021)_ (134450446_1344523 84)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 118,559,939 | 118,591,021 | 134,450,446 | 134,452,384 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15128281 | NCBI36: NC_000011.8:g.(118559939_118591021)_(134450446_134452384)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000453298.2, VCV000398693.2 | 3 |