A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14407683



Internal ID22322707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38815995..38816061hg38UCSC Ensembl
chr21:40187919..40187985hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3289525
Supporting Variants
SamplesNA19240
Known GenesETS2
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)nssv14407683
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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