A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3504089



Internal ID18802370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7851817..7882543hg38UCSC Ensembl
Innerchr12:8004413..8035139hg19UCSC Ensembl
Innerchr12:7895680..7926406hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3830727
hg1930727
hg1830727
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1035735
Supporting Variants
Samples
Known GenesSLC2A14
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3504089
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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