A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457867



Internal ID15517932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:63009712..63155117hg38UCSC Ensembl
Innerchr17:61087073..61232478hg19UCSC Ensembl
Innerchr17:58440805..58586210hg18UCSC Ensembl
Innerchr17:58440805..58586210hg17UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38145406
hg19145406
hg18145406
hg17145406
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534974
SamplesHGDP00647
Known GenesMIR548W, TANC2
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)nsv457867
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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