A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580454



Internal ID16367863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:603079..922847hg38UCSC Ensembl
Innerchr2:603079..918533hg19UCSC Ensembl
Innerchr2:593079..908533hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38319769
hg19315455
hg18315455
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv902095
Samples
Known GenesLINC01115, TMEM18
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580454
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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