A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007316



Internal ID18749847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:1993827..2157221hg38UCSC Ensembl
Innerchr3:2035511..2198905hg19UCSC Ensembl
Innerchr3:2010511..2173905hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38163395
hg19163395
hg18163395
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4634n100
Supporting Variantsnssv3590363
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)nsv1007316
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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