A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541864



Internal ID15158254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:17391533..17436664hg38UCSC Ensembl
Innerchr9:17391531..17436662hg19UCSC Ensembl
Innerchr9:17381531..17426662hg18UCSC Ensembl
Innerchr9:17381531..17426662hg17UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg3845132
hg1945132
hg1845132
hg1745132
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466273
Supporting Variants
SamplesHGDP00005
Known GenesCNTLN
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)nssv541864
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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