A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012903



Internal ID18755435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:49941332..50034445hg38UCSC Ensembl
Innerchr3:49978765..50071878hg19UCSC Ensembl
Innerchr3:49953769..50046882hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3893114
hg1993114
hg1893114
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3595255
Samples
Known GenesRBM6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012903
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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