A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517408



Internal ID15444701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:72985844..73029555hg38UCSC Ensembl
Innerchr13:73559982..73603693hg19UCSC Ensembl
Innerchr13:72457983..72501694hg18UCSC Ensembl
Innerchr13:72457983..72501694hg17UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg3843712
hg1943712
hg1843712
hg1743712
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv651933, nssv675159, nssv683640, nssv681992, nssv695651
Samples
Known GenesPIBF1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517408
Frequency
Sample Size2026
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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