A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464225



Internal ID15524290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:170129294..170151634hg38UCSC Ensembl
Innerchr6:170444518..170466858hg19UCSC Ensembl
Innerchr6:170286443..170308783hg18UCSC Ensembl
Innerchr6:170362150..170384490hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3822341
hg1922341
hg1822341
hg1722341
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540170
SamplesHGDP00518
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)nsv464225
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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