A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522515



Internal ID15103122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45845814..45846317hg38UCSC Ensembl
Innerchr17:43923180..43923683hg19UCSC Ensembl
Innerchr17:41278960..41279463hg18UCSC Ensembl
Innerchr17:41278960..41279463hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38504
hg19504
hg18504
hg17504
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705884
Samples
Known GenesMAPT-AS1, SPPL2C
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522515
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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