A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv508



Internal ID15545001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:156035537..156080043hg38UCSC Ensembl
Outerchr5:155462547..155507053hg19UCSC Ensembl
Outerchr5:155395125..155439631hg18UCSC Ensembl
Outerchr5:155395125..155439631hg17UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg3844507
hg1944507
hg1844507
hg1744507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5087
Supporting Variants
SamplesNA19240
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)nssv508
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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