A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523779



Internal ID15104386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6650888..6653928hg38UCSC Ensembl
Innerchr16:6700889..6703929hg19UCSC Ensembl
Innerchr16:6640890..6643930hg18UCSC Ensembl
Innerchr16:6640890..6643930hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg383041
hg193041
hg183041
hg173041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699602
Samples
Known GenesRBFOX1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523779
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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