A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129539



Internal ID19280988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:120601606..120621971hg38UCSC Ensembl
Outerchr12:121039409..121059774hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3820366
hg1920366
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3963788
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129539
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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