A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564071



Internal ID16004794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:24801129..24819021hg38UCSC Ensembl
Innerchr14:25270335..25288227hg19UCSC Ensembl
Innerchr14:24340175..24358067hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3817893
hg1917893
hg1817893
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149476
Samples1782681263_A
Known GenesSTXBP6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564071
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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