A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943



Internal ID8517785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:17056810..17089204hg38UCSC Ensembl
Outerchr10:17098809..17131203hg19UCSC Ensembl
Outerchr10:17138815..17171209hg18UCSC Ensembl
Outerchr10:17138815..17171209hg17UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg386830
hg196830
hg186830
hg176830
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5249
SamplesNA19129
Known GenesCUBN
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)nsv5943
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