A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998254



Internal ID18840737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:124430553..124432254hg38UCSC Ensembl
Outerchr12:124915099..124916800hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381702
hg191702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146892
Supporting Variants
SamplesKWB1
Known GenesNCOR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998254
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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