A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11044



Internal ID15539664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:33470230..33488305hg38UCSC Ensembl
Outerchr21:34842537..34860612hg19UCSC Ensembl
Outerchr21:33764407..33782482hg18UCSC Ensembl
Outerchr21:33764407..33782482hg17UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg389557
hg199557
hg189557
hg179557
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3497
Supporting Variants
SamplesNA15510
Known GenesDNAJC28, TMEM50B
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)nssv11044
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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