A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041563



Internal ID18784094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:50311932..50467916hg38UCSC Ensembl
Innerchr12:50705715..50861699hg19UCSC Ensembl
Innerchr12:48991982..49147966hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38155985
hg19155985
hg18155985
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1499n100
Supporting Variantsnssv3523533
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)nsv1041563
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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