A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv303



Internal ID15547598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:44498174..44532093hg38UCSC Ensembl
Outerchr11:44519724..44553643hg19UCSC Ensembl
Outerchr11:44476300..44510219hg18UCSC Ensembl
Outerchr11:44476300..44510219hg17UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg385522
hg195522
hg185522
hg175522
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8904
SamplesNA12156
Known Genes
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)nsv303
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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