nsv3921153
- 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:1,145,367
- Description:GRCh38/hg38 11q13.4(chr11:71164008-72309374)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: 3090 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 2608 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 773 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921153 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 71,164,008 | 72,309,374 |
| nsv3921153 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 71,088,949 | 72,020,418 |
| nsv3921153 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 70,552,702 | 71,698,066 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133517 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000051910.4, VCV000058164.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133517 | Submitted genomic | NC_000011.10:g.(?_ 71164008)_(7230937 4_?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 71,164,008 | 72,309,374 |
| nssv15133517 | Submitted genomic | NC_000011.9:g.(?_7 1088949)_(72020418 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 71,088,949 | 72,020,418 |
| nssv15133517 | Submitted genomic | NC_000011.8:g.(?_7 0552702)_(71698066 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 70,552,702 | 71,698,066 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133517 | GRCh37: NC_000011.9:g.(?_71088949)_(72020418_?)dup, GRCh38: NC_000011.10:g.(?_71164008)_(72309374_?)dup, NCBI36: NC_000011.8:g.(?_70552702)_(71698066_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000051910.4, VCV000058164.1 | 3 |