A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1150230



Internal ID15532516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:76654084..76770637hg38UCSC Ensembl
Innerchr2:76881210..76997763hg19UCSC Ensembl
Innerchr2:76734718..76851271hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38116554
hg19116554
hg18116554
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582235
Supporting Variants
SamplesHGDP01325
Known GenesLRRTM4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1150230
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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