A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5249



Internal ID15197099
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 StatusS
Merged Variantsnsv5943
Supporting Variants
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)nssv5249
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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