A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3257



Internal ID15201162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:1857024..1903268hg38UCSC Ensembl
Outerchr20:1837670..1883914hg19UCSC Ensembl
Outerchr20:1785670..1831914hg18UCSC Ensembl
Outerchr20:1785670..1831914hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3813049
hg1913049
hg1813049
hg1713049
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3056, nssv6924, nssv1584, nssv4517
SamplesNA12156, NA12878, NA18555, NA19240
Known GenesSIRPA
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)nsv3257
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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