A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1755



Internal ID15541038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:83220393..83238292hg38UCSC Ensembl
Outerchr8:84132628..84150527hg19UCSC Ensembl
Outerchr8:84295183..84313082hg18UCSC Ensembl
Outerchr8:84295183..84313082hg17UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3819606
hg1919606
hg1819606
hg1719606
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6279
Supporting Variants
SamplesNA18555
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)nssv1755
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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