A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540087



Internal ID15157858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162296666..162522029hg38UCSC Ensembl
Innerchr6:162717698..162943061hg19UCSC Ensembl
Innerchr6:162637688..162863051hg18UCSC Ensembl
Innerchr6:162688109..162913472hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38225364
hg19225364
hg18225364
hg17225364
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464105
Supporting Variants
Samples1782681296_A
Known GenesPARK2
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)nssv540087
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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