A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257942



Internal ID22200948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:100523504..100531072hg38UCSC Ensembl
Outerchr14:100989841..100997409hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381490
hg191490
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238003
Supporting Variants
SamplesHG00732
Known GenesWDR25
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257942
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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