A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002114



Internal ID19187154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:90223560..90223626hg38UCSC Ensembl
Outerchr12:90617337..90617403hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151181
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002114
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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