A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv736845



Internal ID15684115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:212284975..212286221hg38UCSC Ensembl
Innerchr1:212458317..212459563hg19UCSC Ensembl
Innerchr1:210524940..210526186hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381247
hg191247
hg181247
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549141
Supporting Variants
Samples
Known GenesPPP2R5A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv736845
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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