A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541997



Internal ID15159927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:102945702..103236914hg38UCSC Ensembl
Innerchr9:105707984..105999196hg19UCSC Ensembl
Innerchr9:104747805..105039017hg18UCSC Ensembl
Innerchr9:102787539..103078751hg17UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38291213
hg19291213
hg18291213
hg17291213
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466455
Supporting Variants
SamplesHGDP00533
Known GenesCYLC2
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)nssv541997
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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