A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5128



Internal ID15544125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:128447904..128475651hg38UCSC Ensembl
Outerchr8:129460150..129487897hg19UCSC Ensembl
Outerchr8:129529332..129557079hg18UCSC Ensembl
Outerchr8:129529332..129557079hg17UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3827748
hg1927748
hg1827748
hg1727748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6391
Supporting Variants
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)nssv5128
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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