A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2331



Internal ID15546894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:62431568..62465141hg38UCSC Ensembl
Outerchr18:60098801..60132374hg19UCSC Ensembl
Outerchr18:58249781..58283354hg18UCSC Ensembl
Outerchr18:58249781..58283354hg17UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg386178
hg196178
hg186178
hg176178
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4329
SamplesNA12878
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)nsv2331
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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