A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv326



Internal ID15201165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:57731081..57748887hg38UCSC Ensembl
Outerchr11:57498553..57516359hg19UCSC Ensembl
Outerchr11:57255129..57272935hg18UCSC Ensembl
Outerchr11:57255129..57272935hg17UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg386508
hg196508
hg186508
hg176508
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1010
SamplesNA19240
Known GenesBTBD18, C11orf31, TMX2, TMX2-CTNND1
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)nsv326
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