A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456790



Internal ID15516855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:33971817..33989532hg38UCSC Ensembl
Innerchr15:34264018..34281733hg19UCSC Ensembl
Innerchr15:32051310..32069025hg18UCSC Ensembl
Innerchr15:32051310..32069025hg17UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg3817716
hg1917716
hg1817716
hg1717716
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534070
SamplesHGDP00328
Known GenesAVEN, CHRM5
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)nsv456790
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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