nsv3918887
- 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:11,950,547
- Description:GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)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: 37583 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 37584 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 9203 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 |
|---|---|---|---|---|---|---|---|
| nsv3918887 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 169,334,755 | 181,285,301 |
| nsv3918887 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 168,761,759 | 180,712,302 |
| nsv3918887 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 168,694,337 | 180,644,908 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138140 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141249.5, VCV000152731.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138140 | Submitted genomic | NC_000005.10:g.(?_ 169334755)_(181285 301_?)dup | GRCh38 (hg38) | NC_000005.10 | Chr5 | 169,334,755 | 181,285,301 |
| nssv15138140 | Submitted genomic | NC_000005.9:g.(?_1 68761759)_(1807123 02_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 168,761,759 | 180,712,302 |
| nssv15138140 | Submitted genomic | NC_000005.8:g.(?_1 68694337)_(1806449 08_?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 168,694,337 | 180,644,908 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138140 | GRCh37: NC_000005.9:g.(?_168761759)_(180712302_?)dup, GRCh38: NC_000005.10:g.(?_169334755)_(181285301_?)dup, NCBI36: NC_000005.8:g.(?_168694337)_(180644908_?)dup | copy number gain | maternal | See cases | Pathogenic | ClinVar | RCV000141249.5, VCV000152731.2 | 3 |