A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5912



Internal ID15196781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46283787..46304951hg38UCSC Ensembl
Outerchr21:47703701..47724865hg19UCSC Ensembl
Outerchr21:46528129..46549293hg18UCSC Ensembl
Outerchr21:46528129..46549293hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg386670
hg196670
hg186670
hg176670
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3547
Supporting Variants
SamplesNA19129
Known GenesC21orf58, MCM3AP, YBEY
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)nssv5912
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