A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519647



Internal ID15446940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:177693696..177833128hg38UCSC Ensembl
Innerchr5:177120697..177260129hg19UCSC Ensembl
Innerchr5:177053303..177192735hg18UCSC Ensembl
Innerchr5:177053303..177192735hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38139433
hg19139433
hg18139433
hg17139433
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv657352, nssv680358
Samples
Known GenesFAM153A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519647
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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