A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272773



Internal ID22152585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:120041466..120062038hg38UCSC Ensembl
Outerchr4:120962621..120983193hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg3820573
hg1920573
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192549
Supporting Variants
SamplesHG00514
Known GenesMAD2L1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272773
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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