A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541444



Internal ID15503108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:55799154..55963660hg38UCSC Ensembl
Innerchr8:56711713..56876219hg19UCSC Ensembl
Innerchr8:56874267..57038773hg18UCSC Ensembl
Innerchr8:56874267..57038773hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38164507
hg19164507
hg18164507
hg17164507
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465691
Supporting Variants
Samples1780862082_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)nssv541444
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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