A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2954



Internal ID15541597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:54855271..54884369hg38UCSC Ensembl
Outerchr16:54889183..54918281hg19UCSC Ensembl
Outerchr16:53446684..53475782hg18UCSC Ensembl
Outerchr16:53446684..53475782hg17UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg388440
hg198440
hg188440
hg178440
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1811
Supporting Variants
SamplesNA18555
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)nssv2954
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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