A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1861



Internal ID15546424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:71279772..71298716hg38UCSC Ensembl
Outerchr16:71313675..71332619hg19UCSC Ensembl
Outerchr16:69871176..69890120hg18UCSC Ensembl
Outerchr16:69871176..69890120hg17UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg385416
hg195416
hg185416
hg175416
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5613, nssv1316, nssv4223
SamplesNA12878, NA19240, NA19129
Known GenesCMTR2
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)nsv1861
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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