A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1751



Internal ID15194348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:70106516..70137048hg38UCSC Ensembl
Outerchr8:71018751..71049283hg19UCSC Ensembl
Outerchr8:71181305..71211837hg18UCSC Ensembl
Outerchr8:71181305..71211837hg17UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg389498
hg199498
hg189498
hg179498
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6246
Supporting Variants
SamplesNA18555
Known GenesNCOA2
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)nssv1751
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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