A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126847



Internal ID18918893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:17156291..17156891hg38UCSC Ensembl
Outerchr8:17013800..17014400hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3985123
SamplesKWS1
Known GenesZDHHC2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126847
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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