A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064491



Internal ID19153710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:46451366..46528357hg38UCSC Ensembl
Innerchr22:46847263..46924254hg19UCSC Ensembl
Innerchr22:45225927..45302918hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3876992
hg1976992
hg1876992
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3592265
Samples
Known GenesCELSR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064491
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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