A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112954



Internal ID19267535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:7564278..7567478hg38UCSC Ensembl
Outerchr8:7421800..7425000hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg383201
hg193201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3761n106
Supporting Variantsnssv3967459
SamplesKWS2
Known GenesFAM90A7P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112954
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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