A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513094



Internal ID15505830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:178831589..178833624hg38UCSC Ensembl
Outerchr3:178549377..178551412hg19UCSC Ensembl
Outerchr3:180032071..180034106hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg382036
hg192036
hg182036
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626582
Samples1
Known GenesKCNMB2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513094
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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