A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6223



Internal ID15551111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:61382345..61427429hg38UCSC Ensembl
Outerchr8:62294904..62339988hg19UCSC Ensembl
Outerchr8:62457458..62502542hg18UCSC Ensembl
Outerchr8:62457458..62502542hg17UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3845085
hg1945085
hg1845085
hg1745085
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8501
SamplesNA12156
Known GenesCLVS1
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)nsv6223
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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