A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584322



Internal ID16371731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:211628039..211676652hg38UCSC Ensembl
Innerchr2:212492764..212541377hg19UCSC Ensembl
Innerchr2:212201009..212249622hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3848614
hg1948614
hg1848614
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151174
Samples1798860114_A
Known GenesERBB4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584322
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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