A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2889



Internal ID15200766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:117811935..117840276hg38UCSC Ensembl
Outerchr2:118569511..118597852hg19UCSC Ensembl
Outerchr2:118285981..118314322hg18UCSC Ensembl
Outerchr2:118285741..118314082hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3811099
hg1911099
hg1811099
hg1711099
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6866
SamplesNA12156
Known GenesDDX18
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)nsv2889
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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