A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049334



Internal ID18791865
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 StatusM
Merged Variantsdgv1358n100
Supporting Variantsnssv3708223
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)nsv1049334
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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