A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11189



Internal ID15539390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:85649694..85652579hg38UCSC Ensembl
Outerchr8:86561923..86564808hg19UCSC Ensembl
Outerchr8:86749175..86752060hg18UCSC Ensembl
Outerchr8:86749175..86752060hg17UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3831664
hg1931664
hg1831664
hg1731664
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6284
Supporting Variants
SamplesNA15510
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)nssv11189
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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