nsv3915259
- 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:5,445,407
- Description:GRCh38/hg38 5q33.3-34(chr5:158941354-164386760)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: 13532 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 13532 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 3279 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915259 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 158,941,354 | 164,386,760 |
| nsv3915259 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 158,368,362 | 163,813,766 |
| nsv3915259 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 158,300,940 | 163,746,344 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136894 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138895.5, VCV000149967.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136894 | Submitted genomic | NC_000005.10:g.(?_ 158941354)_(164386 760_?)del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 158,941,354 | 164,386,760 |
| nssv15136894 | Submitted genomic | NC_000005.9:g.(?_1 58368362)_(1638137 66_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 158,368,362 | 163,813,766 |
| nssv15136894 | Submitted genomic | NC_000005.8:g.(?_1 58300940)_(1637463 44_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 158,300,940 | 163,746,344 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136894 | GRCh37: NC_000005.9:g.(?_158368362)_(163813766_?)del, GRCh38: NC_000005.10:g.(?_158941354)_(164386760_?)del, NCBI36: NC_000005.8:g.(?_158300940)_(163746344_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000138895.5, VCV000149967.2 | 1 |