nsv3921126
- 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:6,058,685
- Description:GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)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: 16046 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 16057 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 3783 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921126 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 122,454,392 | 128,513,076 |
| nsv3921126 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 123,466,631 | 129,525,322 |
| nsv3921126 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 123,535,812 | 129,594,504 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161306 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000133620.4, VCV000144138.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161306 | Submitted genomic | NC_000008.11:g.(?_ 122454392)_(128513 076_?)dup | GRCh38 (hg38) | NC_000008.11 | Chr8 | 122,454,392 | 128,513,076 |
| nssv15161306 | Submitted genomic | NC_000008.10:g.(?_ 123466631)_(129525 322_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 123,466,631 | 129,525,322 |
| nssv15161306 | Submitted genomic | NC_000008.9:g.(?_1 23535812)_(1295945 04_?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 123,535,812 | 129,594,504 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161306 | GRCh37: NC_000008.10:g.(?_123466631)_(129525322_?)dup, GRCh38: NC_000008.11:g.(?_122454392)_(128513076_?)dup, NCBI36: NC_000008.9:g.(?_123535812)_(129594504_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000133620.4, VCV000144138.2 | 3 |