A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213182



Internal ID22360203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:74396226..74396487hg38UCSC Ensembl
chr11:74107271..74107532hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14357898, nssv14357897, nssv14357896, nssv14357899
SamplesNA19238, NA19239, NA19240, HG00733
Known GenesPGM2L1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213182
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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