A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141220



Internal ID19262849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:128118955..128120455hg38UCSC Ensembl
Outerchr12:128603500..128605000hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381501
hg191501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3992725
SamplesKWS2
Known GenesLOC101927694
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141220
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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