A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042365



Internal ID18784896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8168291..8268228hg38UCSC Ensembl
Innerchr12:8320887..8420824hg19UCSC Ensembl
Innerchr12:8212154..8312091hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3899938
hg1999938
hg1899938
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1359n100
Supporting Variantsnssv3506649
Samples
Known GenesFAM66C, FAM86FP, FAM90A1, ZNF705A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042365
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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