A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592555



Internal ID16379964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:175354813..175371046hg38UCSC Ensembl
Innerchr3:175072602..175088835hg19UCSC Ensembl
Innerchr3:176555296..176571529hg18UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3816234
hg1916234
hg1816234
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8737n54
Supporting Variantsnssv981329
Samples
Known GenesMIR4789, NAALADL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592555
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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