A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272345



Internal ID22292997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:21075739..21206721hg38UCSC Ensembl
Outerchr4:21077362..21208344hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg38130983
hg19130983
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190753
Supporting Variants
SamplesNA19240
Known GenesKCNIP4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272345
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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