A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4848



Internal ID15196363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:80623591..80640149hg38UCSC Ensembl
Outerchr5:79919410..79935968hg19UCSC Ensembl
Outerchr5:79955166..79971724hg18UCSC Ensembl
Outerchr5:79955166..79971724hg17UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg388093
hg198093
hg188093
hg178093
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4895
Supporting Variants
SamplesNA19129
Known GenesDHFR
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)nssv4848
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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