A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3829



Internal ID15548477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:54947312..54979209hg38UCSC Ensembl
Outerchr3:54981339..55013236hg19UCSC Ensembl
Outerchr3:54956379..54988276hg18UCSC Ensembl
Outerchr3:54956379..54988276hg17UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg387610
hg197610
hg187610
hg177610
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10346
SamplesNA18956
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)nsv3829
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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