A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129384



Internal ID19256362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:18361642..18364764hg38UCSC Ensembl
Outerchr17:18264956..18268078hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg383123
hg193123
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962823
SamplesKWS1
Known GenesSHMT1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129384
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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