A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123191



Internal ID19260226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:72853875..72853934hg38UCSC Ensembl
Outerchr18:70521110..70521169hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972187
SamplesKWS2
Known GenesNETO1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123191
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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