A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273773



Internal ID22127855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:173600467..173618092hg38UCSC Ensembl
Outerchr4:174521618..174539243hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg3817626
hg1917626
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190531
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273773
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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