A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146967



Internal ID19202058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:57887043..57887108hg38UCSC Ensembl
Outerchr12:58280826..58280891hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3998331
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146967
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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