A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4969



Internal ID15549731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:116418222..116432156hg38UCSC Ensembl
Outerchr5:115753919..115767853hg19UCSC Ensembl
Outerchr5:115781818..115795752hg18UCSC Ensembl
Outerchr5:115781818..115795752hg17UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3813935
hg1913935
hg1813935
hg1713935
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8138
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)nsv4969
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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