A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3515080



Internal ID18813361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52042..147054hg38UCSC Ensembl
Innerchr12:161208..256220hg19UCSC Ensembl
Innerchr12:31469..126481hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3895013
hg1995013
hg1895013
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1052647
Supporting Variants
Samples
Known GenesIQSEC3, LOC574538
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3515080
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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