A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6988



Internal ID15551952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:68371524..68397194hg38UCSC Ensembl
Outerchr10:70131281..70156951hg19UCSC Ensembl
Outerchr10:69801287..69826957hg18UCSC Ensembl
Outerchr10:69801287..69826957hg17UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg3813756
hg1913756
hg1813756
hg1713756
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5294, nssv6402
SamplesNA12156, NA19129
Known GenesRUFY2
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)nsv6988
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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