A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149474



Internal ID15530971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23126512..23163297hg38UCSC Ensembl
Innerchr14:23595721..23632506hg19UCSC Ensembl
Innerchr14:22665561..22702346hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3836786
hg1936786
hg1836786
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv564040
Supporting Variants
SamplesHGDP01023
Known GenesSLC7A8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1149474
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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