A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4700



Internal ID15549436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:6960785..6981859hg38UCSC Ensembl
Outerchr5:6960898..6981972hg19UCSC Ensembl
Outerchr5:7013898..7034972hg18UCSC Ensembl
Outerchr5:7013898..7034972hg17UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3821075
hg1921075
hg1821075
hg1721075
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8057
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)nsv4700
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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