A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3433



Internal ID8515024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:59267858..59302065hg38UCSC Ensembl
Outerchr20:57842913..57877120hg19UCSC Ensembl
Outerchr20:57276308..57310515hg18UCSC Ensembl
Outerchr20:57276308..57310515hg17UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg385822
hg195822
hg185822
hg175822
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3066
SamplesNA18555
Known GenesEDN3
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)nsv3433
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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