nsv3922201
- 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:16,828,538
- Description:GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)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: 53189 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 52918 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 13462 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922201 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 128,220,912 | 145,049,449 |
| nsv3922201 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 129,233,158 | 146,274,835 |
| nsv3922201 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 129,302,340 | 146,245,639 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161266 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050830.6, VCV000057179.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161266 | Submitted genomic | NC_000008.11:g.(?_ 128220912)_(145049 449_?)dup | GRCh38 (hg38) | NC_000008.11 | Chr8 | 128,220,912 | 145,049,449 |
| nssv15161266 | Submitted genomic | NC_000008.10:g.(?_ 129233158)_(146274 835_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 129,233,158 | 146,274,835 |
| nssv15161266 | Submitted genomic | NC_000008.9:g.(?_1 29302340)_(1462456 39_?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 129,302,340 | 146,245,639 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161266 | GRCh37: NC_000008.10:g.(?_129233158)_(146274835_?)dup, GRCh38: NC_000008.11:g.(?_128220912)_(145049449_?)dup, NCBI36: NC_000008.9:g.(?_129302340)_(146245639_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000050830.6, VCV000057179.1 | 3 |