A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275021



Internal ID22121559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:44274472..44372487hg38UCSC Ensembl
Outerchr4:44276489..44374504hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg3898016
hg1998016
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193383
Supporting Variants
SamplesHG00512
Known GenesKCTD8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275021
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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