nsv3919465
- 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:3,001,079
- Description:GRCh38/hg38 6p21.1-12.3(chr6:44985760-47986838)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: 6731 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 6731 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 1687 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919465 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 44,985,760 | 47,986,838 |
| nsv3919465 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 44,953,497 | 47,954,574 |
| nsv3919465 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 45,061,475 | 48,062,533 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161771 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000135580.5, VCV000146275.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161771 | Submitted genomic | NC_000006.12:g.(?_ 44985760)_(4798683 8_?)dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 44,985,760 | 47,986,838 |
| nssv15161771 | Submitted genomic | NC_000006.11:g.(?_ 44953497)_(4795457 4_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 44,953,497 | 47,954,574 |
| nssv15161771 | Submitted genomic | NC_000006.10:g.(?_ 45061475)_(4806253 3_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 45,061,475 | 48,062,533 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161771 | GRCh37: NC_000006.11:g.(?_44953497)_(47954574_?)dup, GRCh38: NC_000006.12:g.(?_44985760)_(47986838_?)dup, NCBI36: NC_000006.10:g.(?_45061475)_(48062533_?)dup | copy number gain | de novo | See cases | Likely pathogenic | ClinVar | RCV000135580.5, VCV000146275.2 | 3 |