A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460484



Internal ID15520549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:30839805..30951091hg38UCSC Ensembl
Innerchr3:30881297..30992583hg19UCSC Ensembl
Innerchr3:30856301..30967587hg18UCSC Ensembl
Innerchr3:30856301..30967587hg17UCSC Ensembl
Cytoband3p23
Allele length
AssemblyAllele length
hg38111287
hg19111287
hg18111287
hg17111287
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537047
SamplesHGDP01168
Known GenesGADL1
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)nsv460484
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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