A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044380



Internal ID19133599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:19029914..19069026hg38UCSC Ensembl
Innerchr13:19604054..19643166hg19UCSC Ensembl
Innerchr13:18502054..18541166hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3839113
hg1939113
hg1839113
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3714935
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044380
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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