A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3689



Internal ID15538417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:131240522..131274777hg38UCSC Ensembl
Outerchr8:132252769..132287024hg19UCSC Ensembl
Outerchr8:132321951..132356206hg18UCSC Ensembl
Outerchr8:132321951..132356206hg17UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg385445
hg195445
hg185445
hg175445
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6400
Supporting Variants
SamplesNA12878
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)nssv3689
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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