A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064246



Internal ID18806777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:40261343..42254320hg38UCSC Ensembl
Innerchr20:38889983..40882960hg19UCSC Ensembl
Innerchr20:38323397..40316374hg18UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg381992978
hg191992978
hg181992978
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3584779
Samples
Known GenesCHD6, EMILIN3, LPIN3, MAFB, MIR6871, PLCG1, PTPRT, TOP1, ZHX3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064246
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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