A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257553



Internal ID22317501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:75502257..75545857hg38UCSC Ensembl
Outerchr13:76076393..76119993hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg3812572
hg1912572
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244134
Supporting Variants
SamplesNA19240
Known GenesCOMMD6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257553
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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