A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952695



Internal ID16954882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:28173837..28178436hg38UCSC Ensembl
Outerchr18:25753801..25758400hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg384600
hg194600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998860
SamplesBILGI_BIOE
Known GenesCDH2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952695
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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