nsv3920789
- 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:2,528,175
- Description:GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)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: 5830 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 5831 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 1412 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920789 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 72,671,629 | 75,199,803 |
| nsv3920789 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 72,963,970 | 75,492,144 |
| nsv3920789 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 70,751,023 | 73,279,197 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137099 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000137347.5, VCV000148272.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137099 | Submitted genomic | NC_000015.10:g.(?_ 72671629)_(7519980 3_?)del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 72,671,629 | 75,199,803 |
| nssv15137099 | Submitted genomic | NC_000015.9:g.(?_7 2963970)_(75492144 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 72,963,970 | 75,492,144 |
| nssv15137099 | Submitted genomic | NC_000015.8:g.(?_7 0751023)_(73279197 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 70,751,023 | 73,279,197 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137099 | GRCh37: NC_000015.9:g.(?_72963970)_(75492144_?)del, GRCh38: NC_000015.10:g.(?_72671629)_(75199803_?)del, NCBI36: NC_000015.8:g.(?_70751023)_(73279197_?)del | copy number loss | not provided | See cases | Likely pathogenic | ClinVar | RCV000137347.5, VCV000148272.2 | 1 |