A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049097



Internal ID19138316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:64561035..64735300hg38UCSC Ensembl
Innerchr14:65027753..65202018hg19UCSC Ensembl
Innerchr14:64097506..64271771hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38174266
hg19174266
hg18174266
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3713509
Samples
Known GenesPLEKHG3, PPP1R36
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049097
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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