A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4219



Internal ID15192260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:67006846..67041549hg38UCSC Ensembl
Outerchr16:67040749..67075452hg19UCSC Ensembl
Outerchr16:65598250..65632953hg18UCSC Ensembl
Outerchr16:65598250..65632953hg17UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg385044
hg195044
hg185044
hg175044
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1840
Supporting Variants
SamplesNA12878
Known GenesCBFB, CES4A
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)nssv4219
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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