A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2129



Internal ID15194726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:2536472..2623325hg38UCSC Ensembl
Outerchr16:2586473..2673326hg19UCSC Ensembl
Outerchr16:2526474..2613327hg18UCSC Ensembl
Outerchr16:2526474..2613327hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3886854
hg1986854
hg1886854
hg1786854
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7275
Supporting Variants
SamplesNA18555
Known GenesLOC652276, PDPK1
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)nssv2129
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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