A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3565425



Internal ID22434144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125036647..125036647hg38UCSC Ensembl
chr8:126048889..126048889hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14344944
SamplesNA19239
Known GenesKIAA0196
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3565425
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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