A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538046



Internal ID15505445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:152647942..152677136hg38UCSC Ensembl
Innerchr4:153569094..153598288hg19UCSC Ensembl
Innerchr4:153788544..153817738hg18UCSC Ensembl
Innerchr4:153926699..153955893hg17UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3829195
hg1929195
hg1829195
hg1729195
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461688
Supporting Variants
SamplesHGDP00135
Known GenesTMEM154
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)nssv538046
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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