A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457711



Internal ID15171090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21399695..21533320hg38UCSC Ensembl
Innerchr17:21303007..21436581hg19UCSC Ensembl
Innerchr17:21243600..21377174hg18UCSC Ensembl
Innerchr17:21243600..21377174hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38133626
hg19133575
hg18133575
hg17133575
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv363n27
Supporting Variantsnssv534843
SamplesHGDP01099
Known GenesC17orf51, KCNJ12, KCNJ18
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)nsv457711
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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