A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541445



Internal ID15502636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:55810132..55961458hg38UCSC Ensembl
Innerchr8:56722691..56874017hg19UCSC Ensembl
Innerchr8:56885245..57036571hg18UCSC Ensembl
Innerchr8:56885245..57036571hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38151327
hg19151327
hg18151327
hg17151327
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465692
Supporting Variants
Samples1780854477_A
Known GenesLYN, TGS1
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)nssv541445
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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