A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055956



Internal ID18798487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:58211957..58367256hg38UCSC Ensembl
Innerchr20:56787013..56942312hg19UCSC Ensembl
Innerchr20:56220419..56375718hg18UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38155300
hg19155300
hg18155300
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3584246
Samples
Known GenesPPP4R1L, RAB22A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055956
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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