A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv579853



Internal ID16020576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43835808..43906694hg38UCSC Ensembl
Innerchr19:44339960..44410846hg19UCSC Ensembl
Innerchr19:49031800..49102686hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3870887
hg1970887
hg1870887
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150646
SamplesNINDS_222
Known GenesLOC100505715, ZNF283, ZNF404
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv579853
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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