A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535053



Internal ID15155325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80205094..80292960hg38UCSC Ensembl
Innerchr17:78178893..78266759hg19UCSC Ensembl
Innerchr17:75793488..75881354hg18UCSC Ensembl
Innerchr17:75793488..75881354hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3887867
hg1987867
hg1887867
hg1787867
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457968
Supporting Variants
Samples1780854080_A
Known GenesCARD14, RNF213, SGSH, SLC26A11
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)nssv535053
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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