A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992450



Internal ID19228816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142130288..142130352hg38UCSC Ensembl
Outerchr8:143211649..143211713hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1140942
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992450
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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