A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10299



Internal ID15542499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:48499872..48518503hg38UCSC Ensembl
Outerchr20:47128118..47135041hg19UCSC Ensembl
Outerchr20:46561525..46568448hg18UCSC Ensembl
Outerchr20:46561525..46568448hg17UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3812579
hg1912579
hg1812579
hg1712579
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3406
Supporting Variants
SamplesNA18956
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)nssv10299
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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