A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019813



Internal ID19109031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149673743..149781874hg38UCSC Ensembl
Innerchr5:149053306..149161437hg19UCSC Ensembl
Innerchr5:149033499..149141630hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38108132
hg19108132
hg18108132
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3648162
Samples
Known GenesPPARGC1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019813
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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