A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537582



Internal ID15162639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:421522..503349hg38UCSC Ensembl
Innerchr4:415311..497138hg19UCSC Ensembl
Innerchr4:405311..487138hg18UCSC Ensembl
Innerchr4:405311..487138hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3881828
hg1981828
hg1881828
hg1781828
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461145
Supporting Variants
SamplesHGDP00975
Known GenesABCA11P, PIGG, ZNF721
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)nssv537582
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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