A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5057



Internal ID15549828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:147934941..147977746hg38UCSC Ensembl
Outerchr5:147314504..147357309hg19UCSC Ensembl
Outerchr5:147294697..147337502hg18UCSC Ensembl
Outerchr5:147294697..147337502hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3816962
hg1916962
hg1816962
hg1716962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4867, nssv4868
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)nsv5057
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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