A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999148



Internal ID19192931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:65549919..65554620hg38UCSC Ensembl
Outerchr12:65943699..65948400hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg384702
hg194702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151964
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999148
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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