nsv3919156
- 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:13,186,118
- Description:GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)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: 46494 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 46047 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 10767 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919156 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 69,916,435 | 83,102,552 |
| nsv3919156 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 67,912,576 | 81,048,189 |
| nsv3919156 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 65,424,171 | 78,653,717 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146769 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143342.5, VCV000155275.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146769 | Submitted genomic | NC_000017.11:g.(?_ 69916435)_(8310255 2_?)dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 69,916,435 | 83,102,552 |
| nssv15146769 | Submitted genomic | NC_000017.10:g.(?_ 67912576)_(8104818 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 67,912,576 | 81,048,189 |
| nssv15146769 | Submitted genomic | NC_000017.9:g.(?_6 5424171)_(78653717 _?)dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 65,424,171 | 78,653,717 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146769 | GRCh37: NC_000017.10:g.(?_67912576)_(81048189_?)dup, GRCh38: NC_000017.11:g.(?_69916435)_(83102552_?)dup, NCBI36: NC_000017.9:g.(?_65424171)_(78653717_?)dup | copy number gain | maternal | See cases | Pathogenic | ClinVar | RCV000143342.5, VCV000155275.2 | 3 |