A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117841



Internal ID19250838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:95039225..95039275hg38UCSC Ensembl
Outerchr8:96051453..96051503hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3958006
SamplesKWS1
Known GenesNDUFAF6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117841
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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