A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121399



Internal ID18920759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:18594135..18594340hg38UCSC Ensembl
Outerchr8:18451645..18451850hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3788n106
Supporting Variantsnssv3965393, nssv3991743
SamplesKWS1, KWS2
Known GenesPSD3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121399
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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