A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040787



Internal ID18783318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:22929958..23294371hg38UCSC Ensembl
Innerchr13:23504097..23868510hg19UCSC Ensembl
Innerchr13:22402097..22766510hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38364414
hg19364414
hg18364414
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3714945
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)nsv1040787
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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