A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046258



Internal ID18788789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:92107212..92706349hg38UCSC Ensembl
Innerchr10:93866969..94466106hg19UCSC Ensembl
Innerchr10:93856949..94456086hg18UCSC Ensembl
Cytoband10q23.32
Allele length
AssemblyAllele length
hg38599138
hg19599138
hg18599138
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3512759
Samples
Known GenesCPEB3, HHEX, IDE, KIF11, MARCH5, MARK2P9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046258
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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