A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526497



Internal ID22395877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86914755..86914868hg38UCSC Ensembl
chr2:87141878..87141991hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4669n152
Supporting Variantsnssv14293945, nssv14293946
SamplesHG00512, HG00514
Known GenesRGPD2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526497
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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