A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273256



Internal ID22132185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:180914888..181010083hg38UCSC Ensembl
Outerchr5:180341888..180437083hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3895196
hg1995196
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203139
Supporting Variants
SamplesHG00513
Known GenesBTNL3, BTNL8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273256
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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