A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542106



Internal ID15158427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:130283369..130309639hg38UCSC Ensembl
Innerchr9:133045648..133071918hg19UCSC Ensembl
Innerchr9:132085469..132111739hg18UCSC Ensembl
Innerchr9:130125202..130151472hg17UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3826271
hg1926271
hg1826271
hg1726271
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466596
Supporting Variants
SamplesHGDP00049
Known Genes
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)nssv542106
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer