nsv3917654
- 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:13,877,599
- Description:GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)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: 48091 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 47763 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 11164 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917654 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 69,209,079 | 83,086,677 |
| nsv3917654 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 67,205,220 | 81,044,553 |
| nsv3917654 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 64,716,815 | 78,637,842 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147088 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052486.5, VCV000058703.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147088 | Submitted genomic | NC_000017.11:g.(?_ 69209079)_(8308667 7_?)dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 69,209,079 | 83,086,677 |
| nssv15147088 | Submitted genomic | NC_000017.10:g.(?_ 67205220)_(8104455 3_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 67,205,220 | 81,044,553 |
| nssv15147088 | Submitted genomic | NC_000017.9:g.(?_6 4716815)_(78637842 _?)dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 64,716,815 | 78,637,842 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147088 | GRCh37: NC_000017.10:g.(?_67205220)_(81044553_?)dup, GRCh38: NC_000017.11:g.(?_69209079)_(83086677_?)dup, NCBI36: NC_000017.9:g.(?_64716815)_(78637842_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000052486.5, VCV000058703.1 | 3 |