A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538048



Internal ID15505784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:152677136..152720630hg38UCSC Ensembl
Innerchr4:153598288..153641782hg19UCSC Ensembl
Innerchr4:153817738..153861232hg18UCSC Ensembl
Innerchr4:153955893..153999387hg17UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3843495
hg1943495
hg1843495
hg1743495
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461690
Supporting Variants
SamplesHGDP00218
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)nssv538048
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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