A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3827



Internal ID15548475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:54168734..54203659hg38UCSC Ensembl
Outerchr3:54202761..54237686hg19UCSC Ensembl
Outerchr3:54177801..54212726hg18UCSC Ensembl
Outerchr3:54177801..54212726hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg386046
hg196046
hg186046
hg176046
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv302
SamplesNA19240
Known GenesCACNA2D3
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)nsv3827
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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