A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013578



Internal ID18756110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:42706366..42775829hg38UCSC Ensembl
Innerchr3:42747858..42817321hg19UCSC Ensembl
Innerchr3:42722862..42792325hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3869464
hg1969464
hg1869464
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4728n100
Supporting Variantsnssv3589730
Samples
Known GenesCCDC13, CCDC13-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013578
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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