nsv3917146
- 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:38,708
- Description:GRCh38/hg38 8q21.11(chr8:72684692-72723399)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: 214 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 214 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 51 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917146 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 72,684,692 | 72,723,399 |
| nsv3917146 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 73,596,927 | 73,635,634 |
| nsv3917146 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 73,759,481 | 73,798,188 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15119540 | copy number gain | Multiple | Multiple | See cases | Benign/Likely benign | ClinVar | RCV000134998.4, VCV000145672.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15119540 | Submitted genomic | NC_000008.11:g.(?_ 72684692)_(7272339 9_?)dup | GRCh38 (hg38) | NC_000008.11 | Chr8 | 72,684,692 | 72,723,399 |
| nssv15119540 | Submitted genomic | NC_000008.10:g.(?_ 73596927)_(7363563 4_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 73,596,927 | 73,635,634 |
| nssv15119540 | Submitted genomic | NC_000008.9:g.(?_7 3759481)_(73798188 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 73,759,481 | 73,798,188 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15119540 | GRCh37: NC_000008.10:g.(?_73596927)_(73635634_?)dup, GRCh38: NC_000008.11:g.(?_72684692)_(72723399_?)dup, NCBI36: NC_000008.9:g.(?_73759481)_(73798188_?)dup | copy number gain | not provided | See cases | Benign/Likely benign | ClinVar | RCV000134998.4, VCV000145672.1 | 3 |