A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508



Internal ID15203167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:117579088..117643039hg38UCSC Ensembl
Outerchr11:117449803..117513754hg19UCSC Ensembl
Outerchr11:116955013..117018964hg18UCSC Ensembl
Outerchr11:116955013..117018964hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg385546
hg195546
hg185546
hg175546
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1043, nssv8965
SamplesNA12156, NA19240
Known GenesDSCAML1
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)nsv508
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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