nsv3912937
- 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:49,504,800
- Description:GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)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: 120175 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 120166 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 29555 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912937 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 106,619,588 | 156,124,387 |
| nsv3912937 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 105,955,289 | 155,551,397 |
| nsv3912937 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 105,983,188 | 155,483,975 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146464 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053524.5, VCV000059672.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146464 | Submitted genomic | NC_000005.10:g.(?_ 106619588)_(156124 387_?)del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 106,619,588 | 156,124,387 |
| nssv15146464 | Submitted genomic | NC_000005.9:g.(?_1 05955289)_(1555513 97_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 105,955,289 | 155,551,397 |
| nssv15146464 | Submitted genomic | NC_000005.8:g.(?_1 05983188)_(1554839 75_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 105,983,188 | 155,483,975 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146464 | GRCh37: NC_000005.9:g.(?_105955289)_(155551397_?)del, GRCh38: NC_000005.10:g.(?_106619588)_(156124387_?)del, NCBI36: NC_000005.8:g.(?_105983188)_(155483975_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000053524.5, VCV000059672.1 | 1 |