nsv3911700
- 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:277,735
- Description:GRCh38/hg38 11q12.3(chr11:62562836-62840570)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: 963 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 963 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 179 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911700 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 62,562,836 | 62,840,570 |
| nsv3911700 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 62,330,308 | 62,608,042 |
| nsv3911700 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 62,086,884 | 62,364,618 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147272 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000134807.4, VCV000145432.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147272 | Submitted genomic | NC_000011.10:g.(?_ 62562836)_(6284057 0_?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 62,562,836 | 62,840,570 |
| nssv15147272 | Submitted genomic | NC_000011.9:g.(?_6 2330308)_(62608042 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 62,330,308 | 62,608,042 |
| nssv15147272 | Submitted genomic | NC_000011.8:g.(?_6 2086884)_(62364618 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 62,086,884 | 62,364,618 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147272 | GRCh37: NC_000011.9:g.(?_62330308)_(62608042_?)dup, GRCh38: NC_000011.10:g.(?_62562836)_(62840570_?)dup, NCBI36: NC_000011.8:g.(?_62086884)_(62364618_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000134807.4, VCV000145432.2 | 3 |