A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518593



Internal ID15445886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:45235928..45252741hg38UCSC Ensembl
Innerchr13:45810063..45826876hg19UCSC Ensembl
Innerchr13:44708063..44724876hg18UCSC Ensembl
Innerchr13:44708063..44724876hg17UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg3816814
hg1916814
hg1816814
hg1716814
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696040
Samples
Known GenesGTF2F2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518593
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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