A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2996777



Internal ID17289729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:126927946..126930945hg38UCSC Ensembl
Outerchr4:127849101..127852100hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv949817
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2996777
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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