A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044052



Internal ID19133271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:102716162..102735196hg38UCSC Ensembl
Innerchr13:103368512..103387546hg19UCSC Ensembl
Innerchr13:102166513..102185547hg18UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3819035
hg1919035
hg1819035
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3525536, nssv3525537
Samples
Known GenesCCDC168
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044052
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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