A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511



Internal ID15203200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:118204437..118239426hg38UCSC Ensembl
Outerchr11:118075152..118110141hg19UCSC Ensembl
Outerchr11:117580362..117615351hg18UCSC Ensembl
Outerchr11:117580362..117615351hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg384760
hg194760
hg184760
hg174760
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994
SamplesNA12878
Known GenesAMICA1, MPZL3
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)nsv511
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