A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1216



Internal ID15545779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:23666321..23695443hg38UCSC Ensembl
Outerchr14:24135530..24164652hg19UCSC Ensembl
Outerchr14:23205370..23234492hg18UCSC Ensembl
Outerchr14:23205370..23234492hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3810372
hg1910372
hg1810372
hg1710372
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10009
SamplesNA18956
Known Genes
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)nsv1216
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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