A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574552



Internal ID16015275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18926974..18987449hg38UCSC Ensembl
Innerchr17:18830287..18890762hg19UCSC Ensembl
Innerchr17:18771012..18831487hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3860476
hg1960476
hg1860476
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149750
SamplesHGDP00582
Known GenesFAM83G, PRPSAP2, SLC5A10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574552
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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