A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564026



Internal ID22432761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6723315..6723315hg38UCSC Ensembl
chr5:6723428..6723428hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14319433, nssv14319432, nssv14319434, nssv14319431, nssv14319430
SamplesHG00512, NA19238, NA19240, HG00513, HG00514
Known GenesPAPD7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3564026
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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