A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3318



Internal ID15547915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:19894494..19928301hg38UCSC Ensembl
Outerchr20:19875138..19908945hg19UCSC Ensembl
Outerchr20:19823138..19856945hg18UCSC Ensembl
Outerchr20:19823138..19856945hg17UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg385474
hg195474
hg185474
hg175474
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5875
SamplesNA19129
Known GenesRIN2
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)nsv3318
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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