A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273693



Internal ID22185651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:133798026..133817660hg38UCSC Ensembl
Outerchr5:133133717..133153351hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3819635
hg1919635
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194659
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273693
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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