A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537579



Internal ID15155272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:73616..173807hg38UCSC Ensembl
Innerchr4:73508..167596hg19UCSC Ensembl
Innerchr4:63508..157596hg18UCSC Ensembl
Innerchr4:63508..157596hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38100192
hg1994089
hg1894089
hg1794089
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461141
Supporting Variants
Samples1780854039_A
Known GenesZNF595, ZNF718
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)nssv537579
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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