A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2236



Internal ID15546799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:27143750..27176327hg38UCSC Ensembl
Outerchr18:24723714..24756291hg19UCSC Ensembl
Outerchr18:22977712..23010289hg18UCSC Ensembl
Outerchr18:22977712..23010289hg17UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg386708
hg196708
hg186708
hg176708
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5692
SamplesNA19129
Known GenesCHST9
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)nsv2236
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