nsv3911732
- 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:1,697,269
- Description:GRCh38/hg38 11q13.2(chr11:66193502-67890770)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: 4947 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 4945 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 1055 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911732 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 66,193,502 | 67,890,770 |
| nsv3911732 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 65,960,973 | 67,658,241 |
| nsv3911732 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 65,717,549 | 67,414,817 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146474 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053623.5, VCV000059757.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146474 | Submitted genomic | NC_000011.10:g.(?_ 66193502)_(6789077 0_?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 66,193,502 | 67,890,770 |
| nssv15146474 | Submitted genomic | NC_000011.9:g.(?_6 5960973)_(67658241 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 65,960,973 | 67,658,241 |
| nssv15146474 | Submitted genomic | NC_000011.8:g.(?_6 5717549)_(67414817 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 65,717,549 | 67,414,817 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146474 | GRCh37: NC_000011.9:g.(?_65960973)_(67658241_?)dup, GRCh38: NC_000011.10:g.(?_66193502)_(67890770_?)dup, NCBI36: NC_000011.8:g.(?_65717549)_(67414817_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000053623.5, VCV000059757.2 | 3 |