A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541884



Internal ID15504993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:23171517..23185204hg38UCSC Ensembl
Innerchr9:23171516..23185202hg19UCSC Ensembl
Innerchr9:23161516..23175202hg18UCSC Ensembl
Innerchr9:23161516..23175202hg17UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3813688
hg1913687
hg1813687
hg1713687
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466300
Supporting Variants
SamplesHGDP00019
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)nssv541884
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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