nsv3913817
- 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:10,939,633
- Description:GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)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: 20306 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 19958 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 5137 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913817 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 45,566,861 | 56,506,493 |
| nsv3913817 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 45,566,963 | 55,802,320 |
| nsv3913817 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 45,602,720 | 55,838,077 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135760 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000138021.4, VCV000148959.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135760 | Submitted genomic | NC_000005.10:g.(?_ 45566861)_(5650649 3_?)dup | GRCh38 (hg38) | NC_000005.10 | Chr5 | 45,566,861 | 56,506,493 |
| nssv15135760 | Submitted genomic | NC_000005.9:g.(?_4 5566963)_(55802320 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 45,566,963 | 55,802,320 |
| nssv15135760 | Submitted genomic | NC_000005.8:g.(?_4 5602720)_(55838077 _?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 45,602,720 | 55,838,077 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15135760 | GRCh37: NC_000005.9:g.(?_45566963)_(55802320_?)dup, GRCh38: NC_000005.10:g.(?_45566861)_(56506493_?)dup, NCBI36: NC_000005.8:g.(?_45602720)_(55838077_?)dup | copy number gain | maternal | See cases | Uncertain significance | ClinVar | RCV000138021.4, VCV000148959.2 | 3 |