A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3518040



Internal ID18469635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33368160..34584831hg38UCSC Ensembl
Innerchr12:33521095..34737766hg19UCSC Ensembl
Innerchr12:33412362..34629033hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg381216672
hg191216672
hg181216672
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1055036
Supporting Variants
Samples
Known GenesALG10, SYT10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3518040
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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