A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578680



Internal ID16366089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14695350..14735523hg38UCSC Ensembl
Innerchr19:14806162..14846335hg19UCSC Ensembl
Innerchr19:14667162..14707335hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3840174
hg1940174
hg1840174
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150337
SamplesHGDP00029
Known GenesEMR2, ZNF333
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578680
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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