A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120263



Internal ID18917039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:59671849..59671927hg38UCSC Ensembl
Outerchr12:60065630..60065708hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961058
SamplesKWS1
Known GenesSLC16A7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120263
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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