A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11040



Internal ID15539668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:57377223..57408544hg38UCSC Ensembl
Outerchr20:55952279..55983600hg19UCSC Ensembl
Outerchr20:55385686..55417006hg18UCSC Ensembl
Outerchr20:55385686..55417006hg17UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg388536
hg198536
hg188536
hg178536
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3424
Supporting Variants
SamplesNA15510
Known GenesMIR5095, RAE1, RBM38
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)nssv11040
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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