A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545566



Internal ID15986289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13300367..13344672hg38UCSC Ensembl
Innerchr1:13626760..13671049hg19UCSC Ensembl
Innerchr1:13499347..13543636hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3844306
hg1944290
hg1844290
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv710252
Samples
Known GenesPRAMEF13, PRAMEF15, PRAMEF9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545566
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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