A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4747



Internal ID15549487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:17891049..17935796hg38UCSC Ensembl
Outerchr5:17891158..17935905hg19UCSC Ensembl
Outerchr5:17926915..17971662hg18UCSC Ensembl
Outerchr5:17926915..17971662hg17UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3844748
hg1944748
hg1844748
hg1744748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8076
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)nsv4747
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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