A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997850



Internal ID16944116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141592534..141615233hg38UCSC Ensembl
Outerchr5:140972101..140994800hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3822700
hg1922700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950417
Supporting Variants
SamplesBILGI_BIOE
Known GenesDIAPH1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997850
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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