A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3708223



Internal ID18659818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8168291..8376784hg38UCSC Ensembl
Innerchr12:8320887..8529380hg19UCSC Ensembl
Innerchr12:8212154..8420647hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38208494
hg19208494
hg18208494
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1049334
Supporting Variants
Samples
Known GenesFAM66C, FAM86FP, FAM90A1, LINC00937, ZNF705A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3708223
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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