nsv3920564
- 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:27,432,881
- Description:GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)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: 78426 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 78439 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 22723 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920564 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 3,224,310 | 30,657,190 |
| nsv3920564 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 3,224,544 | 30,624,967 |
| nsv3920564 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 3,169,543 | 30,732,946 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148873 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138956.6, VCV000150044.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148873 | Submitted genomic | NC_000006.12:g.(?_ 3224310)_(30657190 _?)dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 3,224,310 | 30,657,190 |
| nssv15148873 | Submitted genomic | NC_000006.11:g.(?_ 3224544)_(30624967 _?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 3,224,544 | 30,624,967 |
| nssv15148873 | Submitted genomic | NC_000006.10:g.(?_ 3169543)_(30732946 _?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 3,169,543 | 30,732,946 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148873 | GRCh37: NC_000006.11:g.(?_3224544)_(30624967_?)dup, GRCh38: NC_000006.12:g.(?_3224310)_(30657190_?)dup, NCBI36: NC_000006.10:g.(?_3169543)_(30732946_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000138956.6, VCV000150044.2 | 3 |