A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3415



Internal ID15548022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:51282898..51315751hg38UCSC Ensembl
Outerchr20:49899435..49932288hg19UCSC Ensembl
Outerchr20:49332842..49365695hg18UCSC Ensembl
Outerchr20:49332842..49365695hg17UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg387162
hg197162
hg187162
hg177162
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2340
SamplesNA18555
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)nsv3415
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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