A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534832



Internal ID15506967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18926974..18987449hg38UCSC Ensembl
Innerchr17:18830287..18890762hg19UCSC Ensembl
Innerchr17:18771012..18831487hg18UCSC Ensembl
Innerchr17:18771012..18831487hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3860476
hg1960476
hg1860476
hg1760476
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457699
Supporting Variants
SamplesHGDP00582
Known GenesFAM83G, PRPSAP2, SLC5A10
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)nssv534832
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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