A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3529347



Internal ID22398739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47618762..47618868hg38UCSC Ensembl
chr11:47640314..47640420hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14358215, nssv14358218, nssv14358217, nssv14358216, nssv14358214, nssv14358213
SamplesHG00512, NA19238, NA19239, NA19240, HG00513, HG00514
Known GenesMTCH2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3529347
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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