A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545455



Internal ID15986178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12786855..12823268hg38UCSC Ensembl
Innerchr1:12846998..12883131hg19UCSC Ensembl
Innerchr1:12769585..12805718hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3836414
hg1936134
hg1836134
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv118n54
Supporting Variantsnssv710032
Samples
Known GenesPRAMEF1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545455
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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