nsv3923087
- 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:123,378
- Description:GRCh38/hg38 5q23.3(chr5:128441672-128565049)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: 381 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 381 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 97 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923087 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 128,441,672 | 128,565,049 |
| nsv3923087 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 127,777,365 | 127,900,742 |
| nsv3923087 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 127,805,264 | 127,928,641 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133547 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052111.6, VCV000058358.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133547 | Submitted genomic | NC_000005.10:g.(?_ 128441672)_(128565 049_?)del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 128,441,672 | 128,565,049 |
| nssv15133547 | Submitted genomic | NC_000005.9:g.(?_1 27777365)_(1279007 42_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 127,777,365 | 127,900,742 |
| nssv15133547 | Submitted genomic | NC_000005.8:g.(?_1 27805264)_(1279286 41_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 127,805,264 | 127,928,641 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133547 | GRCh37: NC_000005.9:g.(?_127777365)_(127900742_?)del, GRCh38: NC_000005.10:g.(?_128441672)_(128565049_?)del, NCBI36: NC_000005.8:g.(?_127805264)_(127928641_?)del | copy number loss | maternal | See cases | Pathogenic | ClinVar | RCV000052111.6, VCV000058358.2 | 1 |