A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1848



Internal ID15546411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:68416779..68450358hg38UCSC Ensembl
Outerchr16:68450682..68484261hg19UCSC Ensembl
Outerchr16:67008183..67041762hg18UCSC Ensembl
Outerchr16:67008183..67041762hg17UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg386164
hg196164
hg186164
hg176164
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4221
SamplesNA12878
Known GenesSMPD3
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)nsv1848
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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