A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545125



Internal ID15985848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:3490443..3540731hg38UCSC Ensembl
Innerchr1:3407007..3457295hg19UCSC Ensembl
Innerchr1:3396867..3447155hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3850289
hg1950289
hg1850289
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv708844
Samples
Known GenesMEGF6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545125
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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