A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148837



Internal ID18852178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:18597126..18598434hg38UCSC Ensembl
Outerchr8:18454636..18455944hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381309
hg191309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997625
SamplesKWB1
Known GenesPSD3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148837
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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