A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3559383



Internal ID22428186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:77520130..77520130hg38UCSC Ensembl
chr10:79279888..79279888hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14354989, nssv14354991, nssv14354990
SamplesNA19238, NA19239, NA19240
Known GenesKCNMA1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3559383
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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