A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5407



Internal ID15544026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:17742640..17847513hg38UCSC Ensembl
Outerchr12:17895574..18000447hg19UCSC Ensembl
Outerchr12:17786841..17891714hg18UCSC Ensembl
Outerchr12:17786841..17891714hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38104874
hg19104874
hg18104874
hg17104874
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7229
Supporting Variants
SamplesNA19129
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv5407
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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