A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5133



Internal ID15197432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:12819832..13098411hg38UCSC Ensembl
Outerchr1:12879694..13165883hg19UCSC Ensembl
Outerchr1:12802281..13088470hg18UCSC Ensembl
Outerchr1:12813960..12989866hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38278580
hg19286190
hg18286190
hg17175907
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7172
Supporting Variants
SamplesNA19129
Known GenesHNRNPCL1, LOC649330, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF22, PRAMEF23, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8
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)nssv5133
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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