A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv789504



Internal ID16083460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19340169..19425173hg38UCSC Ensembl
Innerchr12:19493103..19578107hg19UCSC Ensembl
Innerchr12:19384370..19469374hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3885005
hg1985005
hg1885005
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557694
Supporting Variants
Samples
Known GenesPLEKHA5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv789504
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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