A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273872



Internal ID22277606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:21092085..21125448hg38UCSC Ensembl
Outerchr4:21093708..21127071hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg3833364
hg1933364
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192796
Supporting Variants
SamplesNA19239
Known GenesKCNIP4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273872
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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