A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5999



Internal ID15537865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:60680359..60718052hg38UCSC Ensembl
Outerchr5:59976186..60013879hg19UCSC Ensembl
Outerchr5:60011943..60049636hg18UCSC Ensembl
Outerchr5:60011943..60049636hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3837694
hg1937694
hg1837694
hg1737694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4850
Supporting Variants
SamplesNA12156
Known GenesDEPDC1B
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)nssv5999
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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