A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009527



Internal ID18752058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:45820657..46054455hg38UCSC Ensembl
Innerchr1:46286329..46520127hg19UCSC Ensembl
Innerchr1:46058916..46292714hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38233799
hg19233799
hg18233799
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3700652
Samples
Known GenesMAST2, PIK3R3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009527
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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