A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460563



Internal ID15520628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:59786616..59841664hg38UCSC Ensembl
Innerchr3:59772342..59827390hg19UCSC Ensembl
Innerchr3:59747382..59802430hg18UCSC Ensembl
Innerchr3:59747382..59802430hg17UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3855049
hg1955049
hg1855049
hg1755049
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537109
SamplesNINDS_206
Known GenesFHIT
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)nsv460563
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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