A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537970



Internal ID15506606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:102014745..102087555hg38UCSC Ensembl
Innerchr4:102935902..103008712hg19UCSC Ensembl
Innerchr4:103154925..103227735hg18UCSC Ensembl
Innerchr4:103293080..103365890hg17UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3872811
hg1972811
hg1872811
hg1772811
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461596
Supporting Variants
SamplesHGDP00531
Known GenesBANK1
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)nssv537970
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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