A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14404680



Internal ID22316658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56397704..56397946hg38UCSC Ensembl
chr16:56431616..56431858hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3288612
Supporting Variants
SamplesNA19240
Known GenesAMFR
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14404680
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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