A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6290



Internal ID15204499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:86163511..86217579hg38UCSC Ensembl
Outerchr8:87175740..87229808hg19UCSC Ensembl
Outerchr8:87244856..87298924hg18UCSC Ensembl
Outerchr8:87244856..87298924hg17UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3854069
hg1954069
hg1854069
hg1754069
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3676, nssv5114
SamplesNA12878, NA19129
Known GenesSLC7A13
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)nsv6290
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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