A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147992



Internal ID19201204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:1357599..1359259hg38UCSC Ensembl
Outerchr20:1338243..1339903hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381661
hg191661
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001505
SamplesKWB1
Known GenesFKBP1A-SDCBP2, SDCBP2-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147992
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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