A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2127



Internal ID15194724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1194605..1253152hg38UCSC Ensembl
Outerchr16:1244605..1303153hg19UCSC Ensembl
Outerchr16:1184606..1243154hg18UCSC Ensembl
Outerchr16:1184606..1243154hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3858548
hg1958549
hg1858549
hg1758549
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7274
Supporting Variants
SamplesNA18555
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)nssv2127
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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