A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125317



Internal ID19283558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:61477194..61483918hg38UCSC Ensembl
Outerchr8:62389753..62396477hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg386725
hg196725
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983489
SamplesKWS2
Known GenesCLVS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125317
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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