A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547426



Internal ID16334835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109006890..109031192hg38UCSC Ensembl
Innerchr1:109549512..109573814hg19UCSC Ensembl
Innerchr1:109351035..109375337hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3824303
hg1924303
hg1824303
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv721167, nssv721168
Samples
Known GenesWDR47
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547426
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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