A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274375



Internal ID22187545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:46045921..46070120hg38UCSC Ensembl
Outerchr4:46047938..46072137hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3824200
hg1924200
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196291
Supporting Variants
SamplesHG00731
Known GenesGABRG1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274375
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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