A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462203



Internal ID15522268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:63413803..63565369hg38UCSC Ensembl
Innerchr5:62709630..62861196hg19UCSC Ensembl
Innerchr5:62745386..62896952hg18UCSC Ensembl
Innerchr5:62745386..62896952hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38151567
hg19151567
hg18151567
hg17151567
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538423
SamplesHGDP00556
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)nsv462203
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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