A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4801



Internal ID15202861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:38828940..38860474hg38UCSC Ensembl
Outerchr5:38829042..38860576hg19UCSC Ensembl
Outerchr5:38864799..38896333hg18UCSC Ensembl
Outerchr5:38864799..38896333hg17UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg389449
hg199449
hg189449
hg179449
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv466
SamplesNA19240
Known GenesOSMR
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)nsv4801
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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