A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4233



Internal ID15192274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:83039256..83056778hg38UCSC Ensembl
Outerchr16:83072861..83090383hg19UCSC Ensembl
Outerchr16:81630362..81647884hg18UCSC Ensembl
Outerchr16:81630362..81647884hg17UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg384574
hg194574
hg184574
hg174574
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1904
Supporting Variants
SamplesNA12878
Known GenesCDH13
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)nssv4233
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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