A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519527



Internal ID15446820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:105068941..105103057hg38UCSC Ensembl
Innerchr5:104404642..104438758hg19UCSC Ensembl
Innerchr5:104432541..104466657hg18UCSC Ensembl
Innerchr5:104432541..104466657hg17UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg3834117
hg1934117
hg1834117
hg1734117
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv351n21
Supporting Variantsnssv696902
Samples
Known GenesRAB9BP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519527
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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