A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5133



Internal ID15549912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:173572692..173589383hg38UCSC Ensembl
Outerchr5:172999695..173016386hg19UCSC Ensembl
Outerchr5:172932301..172948992hg18UCSC Ensembl
Outerchr5:172932301..172948992hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg386022
hg196022
hg186022
hg176022
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv513
SamplesNA19240
Known GenesLOC285593
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)nsv5133
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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