A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541097



Internal ID15160380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:214984..684607hg38UCSC Ensembl
Innerchr8:164984..634607hg19UCSC Ensembl
Innerchr8:154984..624607hg18UCSC Ensembl
Innerchr8:154984..624607hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38469624
hg19469624
hg18469624
hg17469624
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465264
Supporting Variants
SamplesHGDP00602
Known GenesERICH1, FAM87A, FBXO25, RPL23AP53, TDRP, ZNF596
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)nssv541097
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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