A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538204



Internal ID15507895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:187865684..188095782hg38UCSC Ensembl
Innerchr4:188786838..189016936hg19UCSC Ensembl
Innerchr4:189023832..189253930hg18UCSC Ensembl
Innerchr4:189161987..189392085hg17UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38230099
hg19230099
hg18230099
hg17230099
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461871
Supporting Variants
SamplesHGDP00734
Known GenesTRIML2, ZFP42
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)nssv538204
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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