A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214322



Internal ID22361009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39943613..39945623hg38UCSC Ensembl
chr17:38099866..38101876hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg382011
hg192011
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14379775, nssv14391609, nssv14378599, nssv14389921, nssv14377541, nssv14381248, nssv14392480, nssv14384153, nssv14388135
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLRRC3C
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214322
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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