A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040357



Internal ID19129576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:90248374..90293712hg38UCSC Ensembl
Innerchr13:90900628..90945966hg19UCSC Ensembl
Innerchr13:89698629..89743967hg18UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3845339
hg1945339
hg1845339
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3525475
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)nsv1040357
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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