A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5068



Internal ID15542814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:25538109..25579520hg38UCSC Ensembl
Outerchr8:25395625..25437036hg19UCSC Ensembl
Outerchr8:25451542..25492953hg18UCSC Ensembl
Outerchr8:25451542..25492953hg17UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3841412
hg1941412
hg1841412
hg1741412
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6126
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)nssv5068
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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