A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065994



Internal ID18808525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:59845169..59951828hg38UCSC Ensembl
Innerchr20:58420224..58526883hg19UCSC Ensembl
Innerchr20:57853619..57960278hg18UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38106660
hg19106660
hg18106660
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3584259
Samples
Known GenesFAM217B, PHACTR3, PPP1R3D, SYCP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065994
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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