A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522251



Internal ID15449544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:52452968..52461207hg38UCSC Ensembl
Innerchr17:50530328..50538567hg19UCSC Ensembl
Innerchr17:47885327..47893566hg18UCSC Ensembl
Innerchr17:47885327..47893566hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg388240
hg198240
hg188240
hg178240
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694149
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522251
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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