A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190495



Internal ID22341349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:116446392..116453054hg38UCSC Ensembl
chr6:116767555..116774217hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg386663
hg196663
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14331708, nssv14331709, nssv14331705, nssv14331707, nssv14331703, nssv14331704, nssv14331706
SamplesNA19238, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190495
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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