A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112726



Internal ID19271627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:47247629..47248329hg38UCSC Ensembl
Outerchr18:44774000..44774700hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3967217
SamplesKWS2
Known GenesSKOR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112726
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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