A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274261



Internal ID22193969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8604179..8619227hg38UCSC Ensembl
Outerchr4:8605906..8620954hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38645
hg19645
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221776
Supporting Variants
SamplesHG00731
Known GenesCPZ
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274261
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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