A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274500



Internal ID22313987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:69063099..69139206hg38UCSC Ensembl
Outerchr4:69928817..70004924hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3876108
hg1976108
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204039
Supporting Variants
SamplesNA19240
Known GenesUGT2B7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274500
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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