A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5812



Internal ID15550659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:80971962..81016611hg38UCSC Ensembl
Outerchr7:80601278..80645927hg19UCSC Ensembl
Outerchr7:80439214..80483863hg18UCSC Ensembl
Outerchr7:80245929..80290578hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3844650
hg1944650
hg1844650
hg1744650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8389
SamplesNA12156
Known Genes
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)nsv5812
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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