A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538525



Internal ID15503468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:102297906..102393800hg38UCSC Ensembl
Innerchr5:101633610..101729504hg19UCSC Ensembl
Innerchr5:101661509..101757403hg18UCSC Ensembl
Innerchr5:101661509..101757403hg17UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3895895
hg1995895
hg1895895
hg1795895
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462324
Supporting Variants
Samples1780862300_A
Known GenesSLCO6A1
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)nssv538525
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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