A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147067



Internal ID18849376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:85316764..85343205hg38UCSC Ensembl
Outerchr2:85543887..85570328hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3826442
hg1926442
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3998430
SamplesKWB1
Known GenesRETSAT, TGOLN2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147067
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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