A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146296



Internal ID18854264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:9955192..9955522hg38UCSC Ensembl
Outerchr4:9956816..9957146hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3999494
SamplesKWB1
Known GenesSLC2A9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146296
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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