A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117845



Internal ID18907682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:109058493..109089363hg38UCSC Ensembl
Outerchr8:110070722..110101592hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg3830871
hg1930871
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3958011
SamplesKWS1
Known GenesTRHR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117845
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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