A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274255



Internal ID22153114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:139031382..139043603hg38UCSC Ensembl
Outerchr4:139952536..139964757hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg381341
hg191341
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211108
Supporting Variants
SamplesHG00514
Known GenesCCRN4L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274255
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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