A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466373



Internal ID15526438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:31842564..31892859hg38UCSC Ensembl
Innerchr9:31842562..31892857hg19UCSC Ensembl
Innerchr9:31832562..31882857hg18UCSC Ensembl
Innerchr9:31832562..31882857hg17UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg3850296
hg1950296
hg1850296
hg1750296
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541932
Samples1780854449_A
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)nsv466373
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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