A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004360



Internal ID18746891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:1974634..2128562hg38UCSC Ensembl
Innerchr3:2016318..2170246hg19UCSC Ensembl
Innerchr3:1991318..2145246hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38153929
hg19153929
hg18153929
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4634n100
Supporting Variantsnssv3739540
Samples
Known GenesCNTN4, CNTN4-AS2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004360
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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