A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2328



Internal ID15546891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:60131989..60163187hg38UCSC Ensembl
Outerchr18:57799221..57830420hg19UCSC Ensembl
Outerchr18:55950201..55981400hg18UCSC Ensembl
Outerchr18:55950201..55981400hg17UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg388310
hg198310
hg188310
hg178310
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10164
SamplesNA18956
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)nsv2328
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer