A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564263



Internal ID16004986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:34997378..35087292hg38UCSC Ensembl
Innerchr14:35466584..35556498hg19UCSC Ensembl
Innerchr14:34536335..34626249hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg3889915
hg1989915
hg1889915
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv825345
Samples
Known GenesFAM177A1, PPP2R3C, SRP54
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564263
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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