A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016



Internal ID15198893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:42041861..42072289hg38UCSC Ensembl
Outerchr13:42615997..42646425hg19UCSC Ensembl
Outerchr13:41513997..41544425hg18UCSC Ensembl
Outerchr13:41513997..41544425hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg389456
hg199456
hg189456
hg179456
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10913
SamplesNA15510
Known GenesDGKH
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)nsv1016
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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