A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580123



Internal ID16020846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54053137..54055866hg38UCSC Ensembl
Innerchr19:54556391..54559120hg19UCSC Ensembl
Innerchr19:59248203..59250932hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg382730
hg192730
hg182730
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6542n54
Supporting Variantsnssv901305
Samples
Known GenesVSTM1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580123
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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