A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534962



Internal ID15155401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:54910871..54982748hg38UCSC Ensembl
Innerchr17:52988232..53060109hg19UCSC Ensembl
Innerchr17:50343231..50415108hg18UCSC Ensembl
Innerchr17:50343231..50415108hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3871878
hg1971878
hg1871878
hg1771878
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457853
Supporting Variants
Samples1780854128_A
Known GenesCOX11, STXBP4, TOM1L1
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)nssv534962
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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