nsv3913552
- 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:38,603,911
- Description:GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)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: 109765 SVs from 149 studies. See in: genome view
Overlapping variant regions from other studies: 41617 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 9987 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913552 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 36,449,220 | 75,053,130 |
| nsv3913552 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 57,595,736 | 73,049,225 |
| nsv3913552 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 54,950,518 | 70,560,820 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147369 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137437.9, VCV000148363.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147369 | Submitted genomic | NC_000017.11:g.(?_ 36449220)_(7505313 0_?)dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 36,449,220 | 75,053,130 |
| nssv15147369 | Submitted genomic | NC_000017.10:g.(?_ 57595736)_(7304922 5_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 57,595,736 | 73,049,225 |
| nssv15147369 | Submitted genomic | NC_000017.9:g.(?_5 4950518)_(70560820 _?)dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 54,950,518 | 70,560,820 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147369 | GRCh37: NC_000017.10:g.(?_57595736)_(73049225_?)dup, GRCh38: NC_000017.11:g.(?_36449220)_(75053130_?)dup, NCBI36: NC_000017.9:g.(?_54950518)_(70560820_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000137437.9, VCV000148363.2 | 3 |