A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1174122



Internal ID15530770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:12500530..12509332hg38UCSC Ensembl
Innerchr10:12542529..12551331hg19UCSC Ensembl
Innerchr10:12582535..12591337hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg388803
hg198803
hg188803
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549972
Supporting Variants
SamplesHGDP00994
Known GenesCAMK1D
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1174122
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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