A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2352



Internal ID15546915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:72962379..72984658hg38UCSC Ensembl
Outerchr18:70629614..70651893hg19UCSC Ensembl
Outerchr18:68780594..68802873hg18UCSC Ensembl
Outerchr18:68780594..68802873hg17UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3812298
hg1912298
hg1812298
hg1712298
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1424, nssv10166, nssv6764, nssv5709
SamplesNA12156, NA18956, NA19240, NA19129
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)nsv2352
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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