A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541495



Internal ID15157903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:98093498..98127382hg38UCSC Ensembl
Innerchr8:99105726..99139610hg19UCSC Ensembl
Innerchr8:99174902..99208786hg18UCSC Ensembl
Innerchr8:99174902..99208786hg17UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3833885
hg1933885
hg1833885
hg1733885
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465747
Supporting Variants
Samples1782681495_A
Known GenesC8orf47, HRSP12, POP1
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)nssv541495
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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