A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534838



Internal ID15158619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20911453..20969018hg38UCSC Ensembl
Innerchr17:20814766..20872331hg19UCSC Ensembl
Innerchr17:20755358..20812923hg18UCSC Ensembl
Innerchr17:20755358..20812923hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3857566
hg1957566
hg1857566
hg1757566
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457706
Supporting Variants
SamplesHGDP00099
Known Genes
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)nssv534838
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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