A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518986



Internal ID6024254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:2187750..2191246hg19UCSC Ensembl
Innerchr9:2177750..2181246hg18UCSC Ensembl
Innerchr9:2177750..2181246hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv696454
Samples
Known GenesSMARCA2
Method
AnalysisCNV regions located outside of or spanning over several merged-level regions determined by the submitter
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv518986
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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