A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464029



Internal ID15524094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:118446987..118540100hg38UCSC Ensembl
Innerchr6:118768150..118861263hg19UCSC Ensembl
Innerchr6:118874843..118967956hg18UCSC Ensembl
Innerchr6:118874843..118967956hg17UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3893114
hg1993114
hg1893114
hg1793114
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540028
Samples1780862529_A
Known GenesBRD7P3, CEP85L
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)nsv464029
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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