A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6369



Internal ID15204585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:120642425..120687680hg38UCSC Ensembl
Outerchr8:121654665..121699920hg19UCSC Ensembl
Outerchr8:121723846..121769101hg18UCSC Ensembl
Outerchr8:121723846..121769101hg17UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg3845256
hg1945256
hg1845256
hg1745256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8548
SamplesNA12156
Known GenesSNTB1
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)nsv6369
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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