A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049665



Internal ID18792196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:50311932..50477759hg38UCSC Ensembl
Innerchr12:50705715..50871542hg19UCSC Ensembl
Innerchr12:48991982..49157809hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38165828
hg19165828
hg18165828
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1499n100
Supporting Variantsnssv3523534
Samples
Known GenesFAM186A, LARP4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049665
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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