A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063554



Internal ID18806085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6892758..7112254hg38UCSC Ensembl
Innerchr19:6892769..7112265hg19UCSC Ensembl
Innerchr19:6843769..7063265hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38219497
hg19219497
hg18219497
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3421n100
Supporting Variantsnssv3723273
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)nsv1063554
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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