nsv3918358
- 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:282,209
- Description:GRCh38/hg38 11q23.3(chr11:118933083-119215291)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: 1005 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 1008 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 220 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918358 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 118,933,083 | 119,215,291 |
| nsv3918358 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 118,803,792 | 119,086,001 |
| nsv3918358 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 118,309,002 | 118,591,211 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137152 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000137489.4, VCV000148415.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137152 | Submitted genomic | NC_000011.10:g.(?_ 118933083)_(119215 291_?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 118,933,083 | 119,215,291 |
| nssv15137152 | Submitted genomic | NC_000011.9:g.(?_1 18803792)_(1190860 01_?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 118,803,792 | 119,086,001 |
| nssv15137152 | Submitted genomic | NC_000011.8:g.(?_1 18309002)_(1185912 11_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 118,309,002 | 118,591,211 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137152 | GRCh37: NC_000011.9:g.(?_118803792)_(119086001_?)dup, GRCh38: NC_000011.10:g.(?_118933083)_(119215291_?)dup, NCBI36: NC_000011.8:g.(?_118309002)_(118591211_?)dup | copy number gain | maternal | See cases | Likely benign | ClinVar | RCV000137489.4, VCV000148415.2 | 3 |