A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118916



Internal ID18903906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:41137160..41137860hg38UCSC Ensembl
Outerchr20:39765800..39766500hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981238
SamplesKWS1
Known GenesPLCG1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118916
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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