A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541554



Internal ID15506856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136675295..136834761hg38UCSC Ensembl
Innerchr8:137687538..137847004hg19UCSC Ensembl
Innerchr8:137756720..137916186hg18UCSC Ensembl
Innerchr8:137756720..137916186hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38159467
hg19159467
hg18159467
hg17159467
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465835
Supporting Variants
SamplesHGDP00564
Known Genes
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)nssv541554
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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