A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258218



Internal ID22192133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:30665448..30689300hg38UCSC Ensembl
Outerchr14:31134654..31158506hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg386099
hg196099
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233815
Supporting Variants
SamplesHG00731
Known GenesSCFD1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258218
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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