A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141916



Internal ID18916570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:63212056..63212613hg38UCSC Ensembl
Outerchr18:60879289..60879846hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38558
hg19558
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993420
SamplesKWS1
Known GenesBCL2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141916
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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