A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584157



Internal ID16024880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:197766990..197848507hg38UCSC Ensembl
Innerchr2:198631714..198713231hg19UCSC Ensembl
Innerchr2:198339959..198421476hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3881518
hg1981518
hg1881518
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151128
SamplesNINDS_118
Known GenesBOLL, PLCL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584157
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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