A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000321



Internal ID18844510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1092992..1093095hg38UCSC Ensembl
Outerchr4:1086780..1086883hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1147548
Supporting Variants
SamplesKWB1
Known GenesRNF212
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000321
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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