A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14400686



Internal ID22313159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:53328576..53328639hg38UCSC Ensembl
chr13:53902711..53902774hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221913
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14400686
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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