A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6060



Internal ID15204246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:6956597..7024085hg38UCSC Ensembl
Outerchr8:6814119..6881607hg19UCSC Ensembl
Outerchr8:6801529..6869017hg18UCSC Ensembl
Outerchr8:6801529..6869017hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3867489
hg1967489
hg1867489
hg1767489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv714, nssv6198, nssv11176, nssv5053, nssv9455, nssv1713, nssv10602, nssv3616
SamplesNA18517, NA15510, NA18956, NA19129, NA12156, NA12878, NA19240, NA18555
Known GenesDEFA1, DEFA10P, DEFA1B, DEFA3, DEFA9P, 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)nsv6060
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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