A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049915



Internal ID19139134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:74341219..74415274hg38UCSC Ensembl
Innerchr11:74052264..74126319hg19UCSC Ensembl
Innerchr11:73729912..73803967hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3874056
hg1974056
hg1874056
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3518466
Samples
Known GenesPGM2L1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049915
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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