A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115118



Internal ID18914227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:104360625..104360724hg38UCSC Ensembl
Outerchr8:105372853..105372952hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976169
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115118
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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