A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996821



Internal ID19194877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:114063841..114064134hg38UCSC Ensembl
Outerchr12:114501646..114501939hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38294
hg19294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152219
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996821
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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