A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226365



Internal ID22369197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47622779..47625675hg38UCSC Ensembl
chr11:47644331..47647227hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg382897
hg192897
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14358225, nssv14358222, nssv14358220, nssv14358223, nssv14358221, nssv14358226, nssv14358224, nssv14358219
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMTCH2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226365
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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