A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2193



Internal ID15194790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:32094838..32111717hg38UCSC Ensembl
Outerchr18:29674801..29691680hg19UCSC Ensembl
Outerchr18:27928799..27945678hg18UCSC Ensembl
Outerchr18:27928799..27945678hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg389232
hg199232
hg189232
hg179232
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2248
Supporting Variants
SamplesNA18555
Known GenesRNF138
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)nssv2193
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