A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584982



Internal ID16372391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241778331..241827251hg38UCSC Ensembl
Innerchr2:242717746..242769429hg19UCSC Ensembl
Innerchr2:242366419..242418102hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3848921
hg1951684
hg1851684
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv934791
Samples
Known GenesGAL3ST2, NEU4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584982
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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