A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274502



Internal ID22297820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:106015489..106057558hg38UCSC Ensembl
Outerchr4:106936646..106978715hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3842070
hg1942070
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191845
Supporting Variants
SamplesNA19240
Known GenesTBCK
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274502
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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