A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464065



Internal ID15524130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:139706699..139764736hg38UCSC Ensembl
Innerchr6:140027836..140085873hg19UCSC Ensembl
Innerchr6:140069529..140127566hg18UCSC Ensembl
Innerchr6:140069529..140127566hg17UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg3858038
hg1958038
hg1858038
hg1758038
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540054
SamplesHGDP01043
Known Genes
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)nsv464065
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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