A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3314



Internal ID15547911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:19128368..19162061hg38UCSC Ensembl
Outerchr20:19109012..19142705hg19UCSC Ensembl
Outerchr20:19057012..19090705hg18UCSC Ensembl
Outerchr20:19057012..19090705hg17UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg385722
hg195722
hg185722
hg175722
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7659
SamplesNA12156
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)nsv3314
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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