A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584304



Internal ID16371713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:208713876..208840435hg38UCSC Ensembl
Innerchr2:209578600..209705159hg19UCSC Ensembl
Innerchr2:209286845..209413404hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38126560
hg19126560
hg18126560
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv930902
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584304
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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