A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4187



Internal ID15192228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1194371..1251856hg38UCSC Ensembl
Outerchr16:1244371..1301857hg19UCSC Ensembl
Outerchr16:1184372..1241858hg18UCSC Ensembl
Outerchr16:1184372..1241858hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3857486
hg1957487
hg1857487
hg1757487
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7274
Supporting Variants
SamplesNA12878
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)nssv4187
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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