A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461124



Internal ID15174503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:192716269..192885540hg38UCSC Ensembl
Innerchr3:192434058..192603329hg19UCSC Ensembl
Innerchr3:193916752..194086023hg18UCSC Ensembl
Innerchr3:193916760..194086031hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38169272
hg19169272
hg18169272
hg17169272
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537571
SamplesHGDP01033
Known GenesFGF12, MB21D2
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)nsv461124
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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