A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580422



Internal ID16021145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:301784..1220708hg38UCSC Ensembl
Innerchr2:301784..1216394hg19UCSC Ensembl
Innerchr2:291784..1206395hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38918925
hg19914611
hg18914612
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6598n54
Supporting Variantsnssv902053
Samples
Known GenesLINC01115, SNTG2, TMEM18
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580422
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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