A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574748



Internal ID16362157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:35357016..35439928hg38UCSC Ensembl
Innerchr17:33684035..33766947hg19UCSC Ensembl
Innerchr17:30708148..30791060hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3882913
hg1982913
hg1882913
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5532n54
Supporting Variantsnssv869843, nssv1149358
SamplesHGDP00161
Known GenesSLFN11, SLFN12, SLFN13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574748
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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