A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv723



Internal ID15545368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:25113215..25168060hg38UCSC Ensembl
Outerchr8:24970730..25025575hg19UCSC Ensembl
Outerchr8:25026647..25081492hg18UCSC Ensembl
Outerchr8:25026647..25081492hg17UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3854846
hg1954846
hg1854846
hg1754846
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6123
Supporting Variants
SamplesNA19240
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)nssv723
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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