A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062512



Internal ID18805043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:80081190..80127942hg38UCSC Ensembl
Innerchr18:77839092..77885825hg19UCSC Ensembl
Innerchr18:75940080..75986816hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3846753
hg1946734
hg1846737
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3723249
Samples
Known GenesADNP2, RBFADN
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062512
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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