A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018700



Internal ID19107917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:7414033..7465343hg38UCSC Ensembl
Innerchr5:7414146..7465456hg19UCSC Ensembl
Innerchr5:7467146..7518456hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3851311
hg1951311
hg1851311
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5562n100
Supporting Variantsnssv3639636, nssv3639637
Samples
Known GenesADCY2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018700
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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