nsv3917856
- 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:36,646,268
- Description:GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)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: 91254 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 91208 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 23166 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917856 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 74,163,186 | 110,809,453 |
| nsv3917856 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 73,459,011 | 110,145,153 |
| nsv3917856 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 73,494,767 | 110,173,052 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120567 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051839.5, VCV000058096.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120567 | Submitted genomic | NC_000005.10:g.(?_ 74163186)_(1108094 53_?)dup | GRCh38 (hg38) | NC_000005.10 | Chr5 | 74,163,186 | 110,809,453 |
| nssv15120567 | Submitted genomic | NC_000005.9:g.(?_7 3459011)_(11014515 3_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 73,459,011 | 110,145,153 |
| nssv15120567 | Submitted genomic | NC_000005.8:g.(?_7 3494767)_(11017305 2_?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 73,494,767 | 110,173,052 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120567 | GRCh37: NC_000005.9:g.(?_73459011)_(110145153_?)dup, GRCh38: NC_000005.10:g.(?_74163186)_(110809453_?)dup, NCBI36: NC_000005.8:g.(?_73494767)_(110173052_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000051839.5, VCV000058096.1 | 3 |