A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537319



Internal ID15508652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:109728616..109765455hg38UCSC Ensembl
Innerchr3:109447463..109484302hg19UCSC Ensembl
Innerchr3:110930153..110966992hg18UCSC Ensembl
Innerchr3:110930153..110966992hg17UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg3836840
hg1936840
hg1836840
hg1736840
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460815
Supporting Variants
SamplesHGDP00881
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)nssv537319
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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