A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464020



Internal ID15177399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:104725659..104852695hg38UCSC Ensembl
Innerchr6:105173534..105300570hg19UCSC Ensembl
Innerchr6:105280227..105407263hg18UCSC Ensembl
Innerchr6:105280227..105407263hg17UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38127037
hg19127037
hg18127037
hg17127037
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540023
SamplesHGDP00169
Known GenesHACE1
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)nsv464020
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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