A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521557



Internal ID15102164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:29562968..29595257hg38UCSC Ensembl
Innerchr17:27889986..27922275hg19UCSC Ensembl
Innerchr17:24914112..24946401hg18UCSC Ensembl
Innerchr17:24914112..24946401hg17UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3832290
hg1932290
hg1832290
hg1732290
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694460
Samples
Known GenesABHD15, ANKRD13B, GIT1, TP53I13
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521557
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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