A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132366



Internal ID19282659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:76320020..76325420hg38UCSC Ensembl
Outerchr12:76713800..76719200hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg385401
hg195401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987139
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132366
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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