A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046696



Internal ID18789227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37659423..38757894hg38UCSC Ensembl
Innerchr12:38053225..39151696hg19UCSC Ensembl
Innerchr12:36339492..37437963hg18UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg381098472
hg191098472
hg181098472
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1468n100
Supporting Variantsnssv3523038
Samples
Known GenesALG10B, CPNE8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046696
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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