A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582519



Internal ID16369928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:99211270..99306504hg38UCSC Ensembl
Innerchr2:99827733..99922967hg19UCSC Ensembl
Innerchr2:99194165..99289399hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3895235
hg1995235
hg1895235
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6975n54
Supporting Variantsnssv1151113
SamplesHGDP00136
Known GenesLYG1, LYG2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582519
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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