A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273745



Internal ID22230077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:166705908..166768673hg38UCSC Ensembl
Outerchr4:167627059..167689824hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3862766
hg1962766
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205024
Supporting Variants
SamplesHG00733
Known GenesSPOCK3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273745
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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