A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5134



Internal ID15549913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:173642876..173658282hg38UCSC Ensembl
Outerchr5:173069879..173085285hg19UCSC Ensembl
Outerchr5:173002485..173017891hg18UCSC Ensembl
Outerchr5:173002485..173017891hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3815407
hg1915407
hg1815407
hg1715407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8194
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)nsv5134
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer