A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464058



Internal ID15524123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:133171368..133206796hg38UCSC Ensembl
Innerchr6:133492507..133527935hg19UCSC Ensembl
Innerchr6:133534200..133569628hg18UCSC Ensembl
Innerchr6:133534200..133569628hg17UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3835429
hg1935429
hg1835429
hg1735429
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540049
SamplesHGDP00966
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)nsv464058
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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