A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541942



Internal ID15507065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:36872317..36886068hg38UCSC Ensembl
Innerchr9:36872314..36886065hg19UCSC Ensembl
Innerchr9:36862314..36876065hg18UCSC Ensembl
Innerchr9:36862314..36876065hg17UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg3813752
hg1913752
hg1813752
hg1713752
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466388
Supporting Variants
SamplesHGDP00602
Known GenesPAX5
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)nssv541942
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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