A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545064



Internal ID15985787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:2151050..2289783hg38UCSC Ensembl
Innerchr1:2082489..2221222hg19UCSC Ensembl
Innerchr1:2072349..2211082hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38138734
hg19138734
hg18138734
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv49n54
Supporting Variantsnssv708738
Samples
Known GenesC1orf86, PRKCZ, SKI
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545064
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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