A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6064



Internal ID15204250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:7001882..7034112hg38UCSC Ensembl
Outerchr8:6859404..6891634hg19UCSC Ensembl
Outerchr8:6846814..6879044hg18UCSC Ensembl
Outerchr8:6846814..6879044hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3820131
hg1920131
hg1820131
hg1720131
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1714, nssv3617
SamplesNA12878, NA18555
Known GenesDEFA1, DEFA11P, DEFA1B, DEFA3, DEFT1P, DEFT1P2
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)nsv6064
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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