A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3559693



Internal ID22428493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:64759013..64759013hg38UCSC Ensembl
chr11:64526485..64526485hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14360464, nssv14360457, nssv14360461, nssv14360463, nssv14360458, nssv14360462, nssv14360459, nssv14360460
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00514
Known GenesPYGM
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3559693
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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