A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545513



Internal ID16332922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12839881..12863002hg38UCSC Ensembl
Innerchr1:12899734..12922857hg19UCSC Ensembl
Innerchr1:12822321..12845444hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3823122
hg1923124
hg1823124
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv131n54
Supporting Variantsnssv710183
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545513
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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