A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3975630



Internal ID18896068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:22589085..22589147hg38UCSC Ensembl
Outerchr8:22446598..22446660hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124328
Supporting Variants
SamplesKWS2
Known GenesPDLIM2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3975630
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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