nsv3921006
- 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:20,094,692
- Description:GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)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: 50462 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 50467 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 12408 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 |
|---|---|---|---|---|---|---|---|
| nsv3921006 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 93,193,104 | 113,287,795 |
| nsv3921006 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 92,528,810 | 112,623,492 |
| nsv3921006 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 92,554,566 | 112,651,391 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138770 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143249.5, VCV000155182.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138770 | Submitted genomic | NC_000005.10:g.(?_ 93193104)_(1132877 95_?)del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 93,193,104 | 113,287,795 |
| nssv15138770 | Submitted genomic | NC_000005.9:g.(?_9 2528810)_(11262349 2_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 92,528,810 | 112,623,492 |
| nssv15138770 | Submitted genomic | NC_000005.8:g.(?_9 2554566)_(11265139 1_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 92,554,566 | 112,651,391 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138770 | GRCh37: NC_000005.9:g.(?_92528810)_(112623492_?)del, GRCh38: NC_000005.10:g.(?_93193104)_(113287795_?)del, NCBI36: NC_000005.8:g.(?_92554566)_(112651391_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000143249.5, VCV000155182.2 | 1 |