A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6654



Internal ID15190524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1196803..1252789hg38UCSC Ensembl
Outerchr16:1246803..1302790hg19UCSC Ensembl
Outerchr16:1186804..1242791hg18UCSC Ensembl
Outerchr16:1186804..1242791hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3855987
hg1955988
hg1855988
hg1755988
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7274
Supporting Variants
SamplesNA12156
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)nssv6654
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer