A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537268



Internal ID15507812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:87061524..87187391hg38UCSC Ensembl
Innerchr3:87110674..87236541hg19UCSC Ensembl
Innerchr3:87193364..87319231hg18UCSC Ensembl
Innerchr3:87193364..87319231hg17UCSC Ensembl
Cytoband3p11.2
Allele length
AssemblyAllele length
hg38125868
hg19125868
hg18125868
hg17125868
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460756
Supporting Variants
SamplesHGDP00721
Known GenesLINC00506
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)nssv537268
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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