A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116572



Internal ID19252927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:18008905..18008957hg38UCSC Ensembl
Outerchr8:17866414..17866466hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978750
SamplesKWS2
Known GenesPCM1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116572
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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