A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248



Internal ID15547838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:252017..281072hg38UCSC Ensembl
Outerchr20:232658..261713hg19UCSC Ensembl
Outerchr20:180658..209713hg18UCSC Ensembl
Outerchr20:180658..209713hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg386226
hg196226
hg186226
hg176226
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7641
SamplesNA12156
Known GenesC20orf96, DEFB132
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)nsv3248
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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