A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545240



Internal ID15985963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6351154..6512115hg38UCSC Ensembl
Innerchr1:6411214..6572175hg19UCSC Ensembl
Innerchr1:6333801..6494762hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38160962
hg19160962
hg18160962
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv709154
Samples
Known GenesACOT7, ESPN, HES2, MIR4252, PLEKHG5, TNFRSF25
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545240
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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