A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv505



Internal ID15549820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:116254780..116286830hg38UCSC Ensembl
Outerchr11:116125497..116157547hg19UCSC Ensembl
Outerchr11:115630707..115662757hg18UCSC Ensembl
Outerchr11:115630707..115662757hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg387235
hg197235
hg187235
hg177235
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5381
SamplesNA19129
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)nsv505
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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