A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2463



Internal ID8514008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:33294939..33313582hg38UCSC Ensembl
Outerchr19:33785845..33804488hg19UCSC Ensembl
Outerchr19:38477685..38496328hg18UCSC Ensembl
Outerchr19:38477685..38496328hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3818644
hg1918644
hg1818644
hg1718644
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4353
SamplesNA12878
Known GenesCEBPA, CEBPA-AS1
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)nsv2463
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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