A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518112



Internal ID15445405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:128088600..128091848hg38UCSC Ensembl
Innerchr9:130850879..130854127hg19UCSC Ensembl
Innerchr9:129890700..129893948hg18UCSC Ensembl
Innerchr9:127930433..127933681hg17UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg383249
hg193249
hg183249
hg173249
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695526
Samples
Known GenesSLC25A25
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518112
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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