A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3267



Internal ID15547859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:4426658..4459632hg38UCSC Ensembl
Outerchr20:4407305..4440279hg19UCSC Ensembl
Outerchr20:4355305..4388279hg18UCSC Ensembl
Outerchr20:4355305..4388279hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg385953
hg195953
hg185953
hg175953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2325, nssv4521, nssv7644, nssv10281, nssv1585
SamplesNA12156, NA12878, NA18956, NA18555, NA19240
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)nsv3267
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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