nsv3923804
- 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:17,469,335
- Description:GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)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: 44049 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 44053 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 10842 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 |
|---|---|---|---|---|---|---|---|
| nsv3923804 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 108,308,463 | 125,777,797 |
| nsv3923804 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 107,644,164 | 125,113,490 |
| nsv3923804 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 107,672,063 | 125,141,389 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138803 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143326.5, VCV000155259.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138803 | Submitted genomic | NC_000005.10:g.(?_ 108308463)_(125777 797_?)del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 108,308,463 | 125,777,797 |
| nssv15138803 | Submitted genomic | NC_000005.9:g.(?_1 07644164)_(1251134 90_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 107,644,164 | 125,113,490 |
| nssv15138803 | Submitted genomic | NC_000005.8:g.(?_1 07672063)_(1251413 89_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 107,672,063 | 125,141,389 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138803 | GRCh37: NC_000005.9:g.(?_107644164)_(125113490_?)del, GRCh38: NC_000005.10:g.(?_108308463)_(125777797_?)del, NCBI36: NC_000005.8:g.(?_107672063)_(125141389_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000143326.5, VCV000155259.2 | 1 |