A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061916



Internal ID18804447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6940751..7085469hg38UCSC Ensembl
Innerchr19:6940762..7085480hg19UCSC Ensembl
Innerchr19:6891762..7036480hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38144719
hg19144719
hg18144719
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3564649
Samples
Known GenesEMR4P, 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)nsv1061916
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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