A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4078



Internal ID15538805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:72233909..72248631hg38UCSC Ensembl
Outerchr13:72808047..72822769hg19UCSC Ensembl
Outerchr13:71706048..71720770hg18UCSC Ensembl
Outerchr13:71706048..71720770hg17UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3814723
hg1914723
hg1814723
hg1714723
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1083
Supporting Variants
SamplesNA12878
Known Genes
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)nssv4078
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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