A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537983



Internal ID15162893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:104948391..105445052hg38UCSC Ensembl
Innerchr4:105869548..106366209hg19UCSC Ensembl
Innerchr4:106088997..106585658hg18UCSC Ensembl
Innerchr4:106227152..106723813hg17UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg38496662
hg19496662
hg18496662
hg17496662
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461609
Supporting Variants
SamplesHGDP01035
Known GenesPPA2, TET2
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)nssv537983
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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