nsv3910113
- 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:230,215
- Description:GRCh38/hg38 17p13.3(chr17:1393938-1624152)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: 1251 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 1251 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 268 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3910113 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 1,393,938 | 1,624,152 |
| nsv3910113 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 1,297,232 | 1,527,446 |
| nsv3910113 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 1,243,982 | 1,474,196 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134563 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000137785.4, VCV000148719.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134563 | Submitted genomic | NC_000017.11:g.(?_ 1393938)_(1624152_ ?)dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 1,393,938 | 1,624,152 |
| nssv15134563 | Submitted genomic | NC_000017.10:g.(?_ 1297232)_(1527446_ ?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 1,297,232 | 1,527,446 |
| nssv15134563 | Submitted genomic | NC_000017.9:g.(?_1 243982)_(1474196_? )dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 1,243,982 | 1,474,196 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134563 | GRCh37: NC_000017.10:g.(?_1297232)_(1527446_?)dup, GRCh38: NC_000017.11:g.(?_1393938)_(1624152_?)dup, NCBI36: NC_000017.9:g.(?_1243982)_(1474196_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000137785.4, VCV000148719.2 | 3 |