A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513171



Internal ID15852593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:145517180..145519359hg38UCSC Ensembl
Outerchr4:146438332..146440511hg19UCSC Ensembl
Outerchr4:146657782..146659961hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg382180
hg192180
hg182180
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626668
Samples1
Known GenesSMAD1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513171
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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