A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014692



Internal ID18757227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196515378..196804953hg38UCSC Ensembl
Innerchr3:196242249..196531824hg19UCSC Ensembl
Innerchr3:197726646..198016221hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38289576
hg19289576
hg18289576
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3616996
Samples
Known GenesCEP19, FBXO45, NRROS, PAK2, PIGX, WDR53
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014692
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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