A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537260



Internal ID15506915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:84729928..84784362hg38UCSC Ensembl
Innerchr3:84779079..84833513hg19UCSC Ensembl
Innerchr3:84861769..84916203hg18UCSC Ensembl
Innerchr3:84861769..84916203hg17UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg3854435
hg1954435
hg1854435
hg1754435
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460746
Supporting Variants
SamplesHGDP00576
Known GenesLINC00971
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)nssv537260
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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