A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040130



Internal ID19129349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:61450203..61518317hg38UCSC Ensembl
Innerchr14:61916921..61985035hg19UCSC Ensembl
Innerchr14:60986674..61054788hg18UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3868115
hg1968115
hg1868115
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531048
Samples
Known GenesPRKCH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040130
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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