A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5075



Internal ID15549848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:153264912..153299651hg38UCSC Ensembl
Outerchr5:152644472..152679211hg19UCSC Ensembl
Outerchr5:152624665..152659404hg18UCSC Ensembl
Outerchr5:152624665..152659404hg17UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3834740
hg1934740
hg1834740
hg1734740
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8170
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)nsv5075
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