A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584348



Internal ID16371757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:212253251..212327936hg38UCSC Ensembl
Innerchr2:213117976..213192660hg19UCSC Ensembl
Innerchr2:212826221..212900905hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3874686
hg1974685
hg1874685
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7275n54
Supporting Variantsnssv930955
Samples
Known GenesERBB4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584348
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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