A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534855



Internal ID15160788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:35282228..35364390hg38UCSC Ensembl
Innerchr17:33609247..33691409hg19UCSC Ensembl
Innerchr17:30633360..30715522hg18UCSC Ensembl
Innerchr17:30633360..30715522hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3882163
hg1982163
hg1882163
hg1782163
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457724
Supporting Variants
SamplesHGDP00667
Known GenesSLFN11
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)nssv534855
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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