A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050240



Internal ID19139459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:31085049..31104918hg38UCSC Ensembl
Innerchr13:31659186..31679055hg19UCSC Ensembl
Innerchr13:30557186..30577055hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3819870
hg1919870
hg1819870
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523227, nssv3523226
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)nsv1050240
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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