A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv553



Internal ID15203662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:131665776..131699953hg38UCSC Ensembl
Outerchr11:131535670..131569847hg19UCSC Ensembl
Outerchr11:131040880..131075057hg18UCSC Ensembl
Outerchr11:131040880..131075057hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg386187
hg196187
hg186187
hg176187
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1051, nssv5387
SamplesNA19129, NA19240
Known GenesNTM
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)nsv553
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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