A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457727



Internal ID15517792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:35357016..35439928hg38UCSC Ensembl
Innerchr17:33684035..33766947hg19UCSC Ensembl
Innerchr17:30708148..30791060hg18UCSC Ensembl
Innerchr17:30708148..30791060hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3882913
hg1982913
hg1882913
hg1782913
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv365n27
Supporting Variantsnssv534856
SamplesHGDP00161
Known GenesSLFN11, SLFN12, SLFN13
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv457727
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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