A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518647



Internal ID15099254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:123287696..123433925hg38UCSC Ensembl
Innerchr9:126049975..126196204hg19UCSC Ensembl
Innerchr9:125089796..125236025hg18UCSC Ensembl
Innerchr9:123129529..123275758hg17UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg38146230
hg19146230
hg18146230
hg17146230
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696096
Samples
Known GenesCRB2, DENND1A, MIR601
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518647
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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