A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522559



Internal ID15449852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55673884..55679449hg38UCSC Ensembl
Innerchr19:56185250..56190815hg19UCSC Ensembl
Innerchr19:60877062..60882627hg18UCSC Ensembl
Innerchr19:60877062..60882627hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg385566
hg195566
hg185566
hg175566
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705942
Samples
Known GenesEPN1, U2AF2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522559
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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