nsv3913446
- 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:17,576
- Description:GRCh38/hg38 6p21.32(chr6:33415354-33432929)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: 120 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 120 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 8 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913446 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 33,415,354 | 33,432,929 |
| nsv3913446 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 33,383,131 | 33,400,706 |
| nsv3913446 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 33,491,109 | 33,508,684 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138122 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000140862.4, VCV000152279.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138122 | Submitted genomic | NC_000006.12:g.(?_ 33415354)_(3343292 9_?)dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 33,415,354 | 33,432,929 |
| nssv15138122 | Submitted genomic | NC_000006.11:g.(?_ 33383131)_(3340070 6_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 33,383,131 | 33,400,706 |
| nssv15138122 | Submitted genomic | NC_000006.10:g.(?_ 33491109)_(3350868 4_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 33,491,109 | 33,508,684 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138122 | GRCh37: NC_000006.11:g.(?_33383131)_(33400706_?)dup, GRCh38: NC_000006.12:g.(?_33415354)_(33432929_?)dup, NCBI36: NC_000006.10:g.(?_33491109)_(33508684_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000140862.4, VCV000152279.2 | 3 |