A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541600



Internal ID15507195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136675987..136838260hg38UCSC Ensembl
Innerchr8:137688230..137850503hg19UCSC Ensembl
Innerchr8:137757412..137919685hg18UCSC Ensembl
Innerchr8:137757412..137919685hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38162274
hg19162274
hg18162274
hg17162274
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465917
Supporting Variants
SamplesHGDP00622
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)nssv541600
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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