A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000994



Internal ID19192909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:90091691..90216192hg38UCSC Ensembl
Outerchr16:90158099..90282600hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38124502
hg19124502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149691
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000994
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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