A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999932



Internal ID18812782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2055469..2838526hg38UCSC Ensembl
Innerchr3:2097153..2880210hg19UCSC Ensembl
Innerchr3:2072153..2855210hg18UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38783058
hg19783058
hg18783058
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4629n100
Supporting Variantsnssv3739543
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)nsv999932
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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