A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462492



Internal ID15522557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:155109833..155144350hg38UCSC Ensembl
Innerchr5:154489393..154523910hg19UCSC Ensembl
Innerchr5:154469586..154504103hg18UCSC Ensembl
Innerchr5:154469586..154504103hg17UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg3834518
hg1934518
hg1834518
hg1734518
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538645
SamplesHGDP00790
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)nsv462492
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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