A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541776



Internal ID15510968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:10365060..10557349hg38UCSC Ensembl
Innerchr9:10365060..10557349hg19UCSC Ensembl
Innerchr9:10355060..10547349hg18UCSC Ensembl
Innerchr9:10355060..10547349hg17UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg38192290
hg19192290
hg18192290
hg17192290
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466161
Supporting Variants
SamplesHGDP01332
Known GenesPTPRD
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)nssv541776
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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