A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542038



Internal ID15161283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:113482702..113600458hg38UCSC Ensembl
Innerchr9:116244982..116362738hg19UCSC Ensembl
Innerchr9:115284803..115402559hg18UCSC Ensembl
Innerchr9:113324536..113442292hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38117757
hg19117757
hg18117757
hg17117757
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466508
Supporting Variants
SamplesHGDP00746
Known GenesRGS3
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)nssv542038
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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