A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952484



Internal ID17301358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:114012396..114013295hg38UCSC Ensembl
Outerchr12:114450201..114451100hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38900
hg19900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997356
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952484
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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