A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518595



Internal ID15445888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:8111756..8112736hg38UCSC Ensembl
Innerchr19:8176640..8177620hg19UCSC Ensembl
Innerchr19:8082640..8083620hg18UCSC Ensembl
Innerchr19:8082640..8083620hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38981
hg19981
hg18981
hg17981
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696042
Samples
Known GenesFBN3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518595
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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