A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457708



Internal ID15517773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21352097..21533320hg38UCSC Ensembl
Innerchr17:21255409..21436581hg19UCSC Ensembl
Innerchr17:21196002..21377174hg18UCSC Ensembl
Innerchr17:21196002..21377174hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38181224
hg19181173
hg18181173
hg17181173
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv363n27
Supporting Variantsnssv534840
SamplesHGDP00800
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)nsv457708
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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