A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046000



Internal ID18788531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:114259923..114323871hg38UCSC Ensembl
Innerchr13:115025398..115089346hg19UCSC Ensembl
Innerchr13:114043500..114107448hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3863949
hg1963949
hg1863949
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1748n100
Supporting Variantsnssv3525669
Samples
Known GenesCDC16, CHAMP1, UPF3A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046000
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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