A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112959



Internal ID18925657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:22693087..22693487hg38UCSC Ensembl
Outerchr8:22550600..22551000hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3967464
SamplesKWS2
Known GenesEGR3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112959
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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