A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146449



Internal ID19197886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:127866354..127871955hg38UCSC Ensembl
Outerchr12:128350899..128356500hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg385602
hg195602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3995605
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146449
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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