nsv3923685
- 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:6,536,740
- Description:GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)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: 14799 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 14799 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 3804 SVs from 33 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nsv3923685 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 137,932,000 | 144,468,739 |
nsv3923685 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 137,650,842 | 144,187,581 |
nsv3923685 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 139,133,532 | 145,670,271 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15132755 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134711.5, VCV000145313.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nssv15132755 | Submitted genomic | NC_000003.12:g.(?_ 137932000)_(144468 739_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 137,932,000 | 144,468,739 |
nssv15132755 | Submitted genomic | NC_000003.11:g.(?_ 137650842)_(144187 581_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 137,650,842 | 144,187,581 |
nssv15132755 | Submitted genomic | NC_000003.10:g.(?_ 139133532)_(145670 271_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 139,133,532 | 145,670,271 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15132755 | GRCh37: NC_000003.11:g.(?_137650842)_(144187581_?)del, GRCh38: NC_000003.12:g.(?_137932000)_(144468739_?)del, NCBI36: NC_000003.10:g.(?_139133532)_(145670271_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000134711.5, VCV000145313.2 | 1 |