A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125291



Internal ID19277471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:118771208..118773028hg38UCSC Ensembl
Outerchr2:119528784..119530604hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg381821
hg191821
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2009n106
Supporting Variantsnssv3983464
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125291
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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