nsv3919086
- 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:3,428,707
- Description:GRCh38/hg38 5q12.1-12.3(chr5:60499077-63927783)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: 8171 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 8171 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 2048 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919086 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 60,499,077 | 63,927,783 |
| nsv3919086 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 59,794,904 | 63,223,610 |
| nsv3919086 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 59,830,661 | 63,259,366 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133051 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000133749.4, VCV000144267.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133051 | Submitted genomic | NC_000005.10:g.(?_ 60499077)_(6392778 3_?)del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 60,499,077 | 63,927,783 |
| nssv15133051 | Submitted genomic | NC_000005.9:g.(?_5 9794904)_(63223610 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 59,794,904 | 63,223,610 |
| nssv15133051 | Submitted genomic | NC_000005.8:g.(?_5 9830661)_(63259366 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 59,830,661 | 63,259,366 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133051 | GRCh37: NC_000005.9:g.(?_59794904)_(63223610_?)del, GRCh38: NC_000005.10:g.(?_60499077)_(63927783_?)del, NCBI36: NC_000005.8:g.(?_59830661)_(63259366_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000133749.4, VCV000144267.2 | 1 |