A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274522



Internal ID22120805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7991687..7995886hg38UCSC Ensembl
Outerchr4:7993414..7997613hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg384200
hg194200
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209626
Supporting Variants
SamplesHG00512
Known GenesABLIM2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274522
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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