A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273333



Internal ID22269823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:162183909..162254514hg38UCSC Ensembl
Outerchr5:161610915..161681520hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3870606
hg1970606
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192163
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273333
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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