A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272348



Internal ID22293054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:21328384..21377228hg38UCSC Ensembl
Outerchr4:21330007..21378851hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3848845
hg1948845
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198227
Supporting Variants
SamplesNA19240
Known GenesKCNIP4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272348
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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