A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4862



Internal ID15549614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:65073710..65104233hg38UCSC Ensembl
Outerchr5:64369537..64400060hg19UCSC Ensembl
Outerchr5:64405293..64435816hg18UCSC Ensembl
Outerchr5:64405293..64435816hg17UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg388762
hg198762
hg188762
hg178762
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4843
SamplesNA19129
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)nsv4862
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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