A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv797500



Internal ID16091456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:62748812..62769239hg38UCSC Ensembl
Innerchr12:63142592..63163019hg19UCSC Ensembl
Innerchr12:61428859..61449286hg18UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg3820428
hg1920428
hg1820428
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559157
Supporting Variants
Samples
Known GenesPPM1H
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv797500
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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