A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064443



Internal ID18806974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:49135574..49439352hg38UCSC Ensembl
Innerchr20:47752111..48055889hg19UCSC Ensembl
Innerchr20:47185518..47489296hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38303779
hg19303779
hg18303779
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3731362
Samples
Known GenesDDX27, KCNB1, SNORD12, SNORD12B, SNORD12C, STAU1, ZFAS1, ZNFX1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064443
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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