nsv3917149
- 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:1,042,465
- Description:GRCh38/hg38 6q16.1-16.2(chr6:98770647-99813111)x1 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: 2356 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 2356 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 718 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 |
|---|---|---|---|---|---|---|---|
| nsv3917149 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 98,770,647 | 99,813,111 |
| nsv3917149 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 99,218,523 | 100,260,987 |
| nsv3917149 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 99,325,244 | 100,367,708 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137833 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000142638.4, VCV000154571.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137833 | Submitted genomic | NC_000006.12:g.(?_ 98770647)_(9981311 1_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 98,770,647 | 99,813,111 |
| nssv15137833 | Submitted genomic | NC_000006.11:g.(?_ 99218523)_(1002609 87_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 99,218,523 | 100,260,987 |
| nssv15137833 | Submitted genomic | NC_000006.10:g.(?_ 99325244)_(1003677 08_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 99,325,244 | 100,367,708 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137833 | GRCh37: NC_000006.11:g.(?_99218523)_(100260987_?)del, GRCh38: NC_000006.12:g.(?_98770647)_(99813111_?)del, NCBI36: NC_000006.10:g.(?_99325244)_(100367708_?)del | copy number loss | tested-inconclusive | See cases | Uncertain significance | ClinVar | RCV000142638.4, VCV000154571.2 | 1 |