A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv519



Internal ID15544707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177901381..177936312hg38UCSC Ensembl
Outerchr5:177328382..177363313hg19UCSC Ensembl
Outerchr5:177260988..177295919hg18UCSC Ensembl
Outerchr5:177260988..177295919hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg386051
hg196051
hg186051
hg176051
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5151
Supporting Variants
SamplesNA19240
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)nssv519
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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