A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952485



Internal ID17301359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:114194296..114200595hg38UCSC Ensembl
Outerchr12:114632101..114638400hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg386300
hg196300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv48n73
Supporting Variantsnssv2997357
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952485
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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