A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2278



Internal ID15200155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:46261766..46296325hg38UCSC Ensembl
Outerchr18:43841729..43876288hg19UCSC Ensembl
Outerchr18:42095727..42130286hg18UCSC Ensembl
Outerchr18:42095727..42130286hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg385191
hg195191
hg185191
hg175191
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4319
SamplesNA12878
Known GenesC18orf25
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)nsv2278
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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