A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591391



Internal ID16378800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:119684298..119723725hg38UCSC Ensembl
Innerchr3:119403145..119442572hg19UCSC Ensembl
Innerchr3:120885835..120925262hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg3839428
hg1939428
hg1839428
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv971755
Samples
Known GenesMAATS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591391
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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