A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256539



Internal ID22210471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:66593570..66637693hg38UCSC Ensembl
Outerchr13:67167702..67211825hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg3844124
hg1944124
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227604
Supporting Variants
SamplesHG00732
Known GenesPCDH9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256539
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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