A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538168



Internal ID15508503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:164609882..164854395hg38UCSC Ensembl
Innerchr4:165531034..165775547hg19UCSC Ensembl
Innerchr4:165750484..165994997hg18UCSC Ensembl
Innerchr4:165888639..166133152hg17UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38244514
hg19244514
hg18244514
hg17244514
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461822
Supporting Variants
SamplesHGDP00855
Known GenesLOC100505989, MIR5684
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)nssv538168
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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