A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146915



Internal ID18854859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:70623404..71162668hg38UCSC Ensembl
Outerchr2:70850536..71389798hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38539265
hg19539263
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3998279
SamplesKWB1
Known GenesADD2, ANKRD53, ATP6V1B1, CD207, CLEC4F, FIGLA, MCEE, MPHOSPH10, NAGK, OR7E91P, TEX261, VAX2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146915
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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