A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460509



Internal ID15173888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:39315814..39356217hg38UCSC Ensembl
Innerchr3:39357305..39397708hg19UCSC Ensembl
Innerchr3:39332309..39372712hg18UCSC Ensembl
Innerchr3:39332309..39372712hg17UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3840404
hg1940404
hg1840404
hg1740404
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537068
SamplesHGDP00458
Known GenesCCR8
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)nsv460509
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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