A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271665



Internal ID22282074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:50899194..50923519hg38UCSC Ensembl
Outerchr3:50936625..50960950hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg3824326
hg1924326
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203656
Supporting Variants
SamplesNA19239
Known GenesDOCK3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271665
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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