A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534974



Internal ID15507352
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 Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457867
Supporting Variants
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)nssv534974
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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