A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010970



Internal ID18753503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:188327..1623352hg38UCSC Ensembl
Innerchr3:230010..1665036hg19UCSC Ensembl
Innerchr3:205010..1640036hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg381435026
hg191435027
hg181435027
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3739533
Samples
Known GenesCHL1, CNTN6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010970
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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