nsv3921035
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:30,944,304
- Description:GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)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: 89215 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 89210 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 23071 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921035 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 12,728,904 | 43,673,207 |
| nsv3921035 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 12,586,413 | 43,528,350 |
| nsv3921035 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 12,630,784 | 43,647,507 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145668 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050912.8, VCV000032941.2 | 3 |
| nssv15148288 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000148237.4, VCV000161019.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145668 | Submitted genomic | NC_000008.11:g.(?_ 12728904)_(4367320 7_?)dup | GRCh38 (hg38) | NC_000008.11 | Chr8 | 12,728,904 | 43,673,207 |
| nssv15148288 | Submitted genomic | NC_000008.11:g.(?_ 12728904)_(4367320 7_?)dup | GRCh38 (hg38) | NC_000008.11 | Chr8 | 12,728,904 | 43,673,207 |
| nssv15145668 | Submitted genomic | NC_000008.10:g.(?_ 12586413)_(4352835 0_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 12,586,413 | 43,528,350 |
| nssv15148288 | Submitted genomic | NC_000008.10:g.(?_ 12586413)_(4352835 0_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 12,586,413 | 43,528,350 |
| nssv15145668 | Submitted genomic | NC_000008.9:g.(?_1 2630784)_(43647507 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 12,630,784 | 43,647,507 |
| nssv15148288 | Submitted genomic | NC_000008.9:g.(?_1 2630784)_(43647507 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 12,630,784 | 43,647,507 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145668 | GRCh37: NC_000008.10:g.(?_12586413)_(43528350_?)dup, GRCh38: NC_000008.11:g.(?_12728904)_(43673207_?)dup, NCBI36: NC_000008.9:g.(?_12630784)_(43647507_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000050912.8, VCV000032941.2 | 3 |
| nssv15148288 | GRCh37: NC_000008.10:g.(?_12586413)_(43528350_?)dup, GRCh38: NC_000008.11:g.(?_12728904)_(43673207_?)dup, NCBI36: NC_000008.9:g.(?_12630784)_(43647507_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000148237.4, VCV000161019.1 | 3 |