A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3518806



Internal ID18470401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:148770..207194hg38UCSC Ensembl
Innerchr12:257936..316360hg19UCSC Ensembl
Innerchr12:128197..186621hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3858425
hg1958425
hg1858425
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1047614
Supporting Variants
Samples
Known GenesIQSEC3, LOC574538, SLC6A12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3518806
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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