A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4814



Internal ID15202875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:42518633..42548543hg38UCSC Ensembl
Outerchr5:42518735..42548645hg19UCSC Ensembl
Outerchr5:42554492..42584402hg18UCSC Ensembl
Outerchr5:42554492..42584402hg17UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3811068
hg1911068
hg1811068
hg1711068
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv467
SamplesNA19240
Known GenesGHR
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)nsv4814
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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