A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046471



Internal ID18789002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:23095243..23316065hg38UCSC Ensembl
Innerchr13:23669382..23890204hg19UCSC Ensembl
Innerchr13:22567382..22788204hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38220823
hg19220823
hg18220823
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3714947
Samples
Known GenesSGCG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046471
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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