A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1289



Internal ID15197747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1207945..1241725hg38UCSC Ensembl
Outerchr16:1257945..1291726hg19UCSC Ensembl
Outerchr16:1197946..1231727hg18UCSC Ensembl
Outerchr16:1197946..1231727hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3833781
hg1933782
hg1833782
hg1733782
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7274
Supporting Variants
SamplesNA19240
Known GenesCACNA1H, TPSAB1, TPSB2, TPSG1
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)nssv1289
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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