A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9127



Internal ID15188051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:54110219..54154846hg38UCSC Ensembl
Outerchr13:54684354..54728981hg19UCSC Ensembl
Outerchr13:53582355..53626982hg18UCSC Ensembl
Outerchr13:53582355..53626982hg17UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3844628
hg1944628
hg1844628
hg1744628
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1049
Supporting Variants
SamplesNA12156
Known GenesLINC00458
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)nssv9127
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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