A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584317



Internal ID16371726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:211448675..211513517hg38UCSC Ensembl
Innerchr2:212313400..212378242hg19UCSC Ensembl
Innerchr2:212021645..212086487hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3864843
hg1964843
hg1864843
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151171
SamplesHGDP01177
Known GenesERBB4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584317
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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