A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584354



Internal ID16371763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:212272022..212344935hg38UCSC Ensembl
Innerchr2:213136747..213209659hg19UCSC Ensembl
Innerchr2:212844992..212917904hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3872914
hg1972913
hg1872913
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7275n54
Supporting Variantsnssv1151180
Samples1780862001_A
Known GenesERBB4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584354
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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