A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4554



Internal ID15539281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:33471476..33482982hg38UCSC Ensembl
Outerchr21:34843783..34855289hg19UCSC Ensembl
Outerchr21:33765653..33777159hg18UCSC Ensembl
Outerchr21:33765653..33777159hg17UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg389648
hg199648
hg189648
hg179648
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3497
Supporting Variants
SamplesNA12878
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)nssv4554
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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