A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2318



Internal ID15546881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:57251647..57285232hg38UCSC Ensembl
Outerchr18:54918878..54952463hg19UCSC Ensembl
Outerchr18:53069876..53103461hg18UCSC Ensembl
Outerchr18:53069876..53103461hg17UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg385834
hg195834
hg185834
hg175834
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7404
SamplesNA12156
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)nsv2318
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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