nsv3915958
- 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:13,660,524
- Description:GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1 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: 32639 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 32634 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 7846 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915958 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 152,443,869 | 166,104,392 |
| nsv3915958 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 151,823,430 | 165,531,397 |
| nsv3915958 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 151,803,623 | 165,463,975 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134758 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138282.4, VCV000149231.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134758 | Submitted genomic | NC_000005.10:g.(?_ 152443869)_(166104 392_?)del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 152,443,869 | 166,104,392 |
| nssv15134758 | Submitted genomic | NC_000005.9:g.(?_1 51823430)_(1655313 97_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 151,823,430 | 165,531,397 |
| nssv15134758 | Submitted genomic | NC_000005.8:g.(?_1 51803623)_(1654639 75_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 151,803,623 | 165,463,975 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134758 | GRCh37: NC_000005.9:g.(?_151823430)_(165531397_?)del, GRCh38: NC_000005.10:g.(?_152443869)_(166104392_?)del, NCBI36: NC_000005.8:g.(?_151803623)_(165463975_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000138282.4, VCV000149231.2 | 1 |