nsv3918116
- 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:698,664
- Description:GRCh38/hg38 6q11.1(chr6:61468685-62167348)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: 1841 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 2295 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 688 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918116 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 61,468,685 | 62,167,348 |
| nsv3918116 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 61,971,892 | 62,877,253 |
| nsv3918116 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 62,029,851 | 62,935,212 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139014 | copy number gain | Multiple | Multiple | See cases | Conflicting interpretations of pathogenicity | ClinVar | RCV000142548.8, VCV000154481.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139014 | Submitted genomic | NC_000006.12:g.(?_ 61468685)_(6216734 8_?)dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 61,468,685 | 62,167,348 |
| nssv15139014 | Submitted genomic | NC_000006.11:g.(?_ 61971892)_(6287725 3_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 61,971,892 | 62,877,253 |
| nssv15139014 | Submitted genomic | NC_000006.10:g.(?_ 62029851)_(6293521 2_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 62,029,851 | 62,935,212 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139014 | GRCh37: NC_000006.11:g.(?_61971892)_(62877253_?)dup, GRCh38: NC_000006.12:g.(?_61468685)_(62167348_?)dup, NCBI36: NC_000006.10:g.(?_62029851)_(62935212_?)dup | copy number gain | see ClinVar for details | See cases | Conflicting interpretations of pathogenicity | ClinVar | RCV000142548.8, VCV000154481.3 | 3 |