A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv949759



Internal ID17298632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2806774..2837673hg38UCSC Ensembl
Outerchr4:2808501..2839400hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3830900
hg1930900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996631
SamplesBILGI_BIOE
Known GenesSH3BP2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv949759
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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