A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546064



Internal ID15986787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40431820..40673669hg38UCSC Ensembl
Innerchr1:40897492..41139341hg19UCSC Ensembl
Innerchr1:40670079..40911928hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38241850
hg19241850
hg18241850
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv712568
Samples
Known GenesEXO5, RIMS3, ZFP69, ZFP69B, ZNF684
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546064
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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