A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537345



Internal ID15163035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:129961523..129990509hg38UCSC Ensembl
Innerchr3:129680366..129709352hg19UCSC Ensembl
Innerchr3:131163056..131192042hg18UCSC Ensembl
Innerchr3:131163064..131192050hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3828987
hg1928987
hg1828987
hg1728987
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460853
Supporting Variants
SamplesHGDP01071
Known GenesTRH
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)nssv537345
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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