A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590365



Internal ID16377774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:57430974..57489624hg38UCSC Ensembl
Innerchr3:57416701..57475351hg19UCSC Ensembl
Innerchr3:57391741..57450391hg18UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3858651
hg1958651
hg1858651
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8337n54
Supporting Variantsnssv963364
Samples
Known GenesDNAH12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590365
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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