A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460971



Internal ID15521036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:165331163..165565960hg38UCSC Ensembl
Innerchr3:165048951..165283748hg19UCSC Ensembl
Innerchr3:166531645..166766442hg18UCSC Ensembl
Innerchr3:166531653..166766450hg17UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg38234798
hg19234798
hg18234798
hg17234798
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537438
Samples1787431197_A
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)nsv460971
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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