A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2139



Internal ID15194736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:28651037..28796959hg38UCSC Ensembl
Outerchr16:28662358..28808280hg19UCSC Ensembl
Outerchr16:28569859..28715781hg18UCSC Ensembl
Outerchr16:28569859..28715781hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38145923
hg19145923
hg18145923
hg17145923
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1776
Supporting Variants
SamplesNA18555
Known GenesEIF3C, EIF3CL, MIR6862-1, MIR6862-2
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)nssv2139
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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