A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952480



Internal ID16954667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:112975496..112985395hg38UCSC Ensembl
Outerchr12:113413301..113423200hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg389900
hg199900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997350
SamplesBILGI_BIOE
Known GenesOAS2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952480
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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