A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2346



Internal ID15540794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:33474231..33487451hg38UCSC Ensembl
Outerchr21:34846538..34859758hg19UCSC Ensembl
Outerchr21:33768408..33781628hg18UCSC Ensembl
Outerchr21:33768408..33781628hg17UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg388697
hg198697
hg188697
hg178697
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3497
Supporting Variants
SamplesNA18555
Known GenesTMEM50B
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)nssv2346
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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