A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584422



Internal ID16371831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:212349579..212405703hg38UCSC Ensembl
Innerchr2:213214303..213270427hg19UCSC Ensembl
Innerchr2:212922548..212978672hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3856125
hg1956125
hg1856125
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv931139
Samples
Known GenesERBB4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584422
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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