A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5082



Internal ID15544180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:40905361..40930397hg38UCSC Ensembl
Outerchr8:40762880..40787916hg19UCSC Ensembl
Outerchr8:40882037..40907073hg18UCSC Ensembl
Outerchr8:40882037..40907073hg17UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3825037
hg1925037
hg1825037
hg1725037
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6167
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)nssv5082
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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