A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2246



Internal ID15546809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:31724994..31740787hg38UCSC Ensembl
Outerchr18:29304957..29320750hg19UCSC Ensembl
Outerchr18:27558955..27574748hg18UCSC Ensembl
Outerchr18:27558955..27574748hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg389148
hg199148
hg189148
hg179148
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5693
SamplesNA19129
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)nsv2246
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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