A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2303



Internal ID15546866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:50624029..50658787hg38UCSC Ensembl
Outerchr18:48150399..48185157hg19UCSC Ensembl
Outerchr18:46404397..46439155hg18UCSC Ensembl
Outerchr18:46404397..46439155hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg386238
hg196238
hg186238
hg176238
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1413
SamplesNA19240
Known GenesMAPK4
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)nsv2303
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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