nsv3909863
- 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:760,168
- Description:GRCh38/hg38 17p11.2(chr17:21416753-22176920)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: 2791 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1290 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 508 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3909863 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 21,416,753 | 22,176,920 |
| nsv3909863 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 21,381,527 | 21,703,526 |
| nsv3909863 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 21,260,658 | 21,627,655 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135121 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000136981.4, VCV000147858.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135121 | Submitted genomic | NC_000017.11:g.(?_ 21416753)_(2217692 0_?)dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 21,416,753 | 22,176,920 |
| nssv15135121 | Submitted genomic | NC_000017.10:g.(?_ 21381527)_(2170352 6_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 21,381,527 | 21,703,526 |
| nssv15135121 | Submitted genomic | NC_000017.9:g.(?_2 1260658)_(21627655 _?)dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 21,260,658 | 21,627,655 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15135121 | GRCh37: NC_000017.10:g.(?_21381527)_(21703526_?)dup, GRCh38: NC_000017.11:g.(?_21416753)_(22176920_?)dup, NCBI36: NC_000017.9:g.(?_21260658)_(21627655_?)dup | copy number gain | tested-inconclusive | See cases | Uncertain significance | ClinVar | RCV000136981.4, VCV000147858.2 | 3 |