A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559363



Internal ID16346772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:72262145..72865334hg38UCSC Ensembl
Innerchr12:72655925..73259114hg19UCSC Ensembl
Innerchr12:70942192..71545381hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38603190
hg19603190
hg18603190
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175867
SamplesNINDS_198
Known GenesTRHDE, TRHDE-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559363
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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