A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462459



Internal ID15522524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:137146858..137191062hg38UCSC Ensembl
Innerchr5:136482547..136526751hg19UCSC Ensembl
Innerchr5:136510446..136554650hg18UCSC Ensembl
Innerchr5:136510446..136554650hg17UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3844205
hg1944205
hg1844205
hg1744205
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538615
SamplesHGDP00859
Known GenesSPOCK1
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)nsv462459
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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