A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464082



Internal ID15524147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:152571603..152605382hg38UCSC Ensembl
Innerchr6:152892738..152926517hg19UCSC Ensembl
Innerchr6:152934431..152968210hg18UCSC Ensembl
Innerchr6:152984852..153018631hg17UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg3833780
hg1933780
hg1833780
hg1733780
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540070
Samples1780854326_A
Known GenesSYNE1
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)nsv464082
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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