A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998279



Internal ID18846116
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 StatusS
Merged Variantsnsv1146915
Supporting Variants
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)nssv3998279
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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