A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064076



Internal ID18806607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6893490..7103958hg38UCSC Ensembl
Innerchr19:6893501..7103969hg19UCSC Ensembl
Innerchr19:6844501..7054969hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38210469
hg19210469
hg18210469
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3421n100
Supporting Variantsnssv3564644
Samples
Known GenesEMR1, EMR4P, FLJ25758, MBD3L2, MBD3L3, MBD3L4, MBD3L5, ZNF557
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064076
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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