nsv3921368
- 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:14,147,561
- Description:GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)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: 32319 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 32273 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 7957 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 |
|---|---|---|---|---|---|---|---|
| nsv3921368 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 87,376,883 | 101,524,443 |
| nsv3921368 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 86,672,700 | 100,860,147 |
| nsv3921368 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 86,708,456 | 100,888,046 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132311 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050945.5, VCV000057272.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132311 | Submitted genomic | NC_000005.10:g.(?_ 87376883)_(1015244 43_?)del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 87,376,883 | 101,524,443 |
| nssv15132311 | Submitted genomic | NC_000005.9:g.(?_8 6672700)_(10086014 7_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 86,672,700 | 100,860,147 |
| nssv15132311 | Submitted genomic | NC_000005.8:g.(?_8 6708456)_(10088804 6_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 86,708,456 | 100,888,046 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132311 | GRCh37: NC_000005.9:g.(?_86672700)_(100860147_?)del, GRCh38: NC_000005.10:g.(?_87376883)_(101524443_?)del, NCBI36: NC_000005.8:g.(?_86708456)_(100888046_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000050945.5, VCV000057272.1 | 1 |