A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258371



Internal ID22118574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:59565301..59581990hg38UCSC Ensembl
Outerchr14:60032019..60048708hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3816690
hg1916690
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217245
Supporting Variants
SamplesHG00512
Known GenesCCDC175
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258371
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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