A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10311



Internal ID15542487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:33455979..33457567hg38UCSC Ensembl
Outerchr21:34828286..34829874hg19UCSC Ensembl
Outerchr21:33750156..33751744hg18UCSC Ensembl
Outerchr21:33750156..33751744hg17UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg389511
hg199511
hg189511
hg179511
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3497
Supporting Variants
SamplesNA18956
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)nssv10311
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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