A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541147



Internal ID15505601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:3462226..3475605hg38UCSC Ensembl
Innerchr8:3319748..3333127hg19UCSC Ensembl
Innerchr8:3307156..3320535hg18UCSC Ensembl
Innerchr8:3307156..3320535hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg3813380
hg1913380
hg1813380
hg1713380
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465344
Supporting Variants
SamplesHGDP00160
Known GenesCSMD1
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)nssv541147
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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