A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519534



Internal ID15446827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:22583472..22583966hg38UCSC Ensembl
Innerchr14:23052377..23052871hg19UCSC Ensembl
Innerchr14:22122217..22122711hg18UCSC Ensembl
Innerchr14:22122217..22122711hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38495
hg19495
hg18495
hg17495
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv656725, nssv660669, nssv684671
Samples
Known GenesDAD1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519534
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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