A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14430633



Internal ID22172826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56568202..56568258hg38UCSC Ensembl
chr16:56602114..56602170hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3286774
Supporting Variants
SamplesHG00514
Known GenesMT4
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)nssv14430633
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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