A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv507



Internal ID15545003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:152073995..152088875hg38UCSC Ensembl
Outerchr5:151453556..151468436hg19UCSC Ensembl
Outerchr5:151433749..151448629hg18UCSC Ensembl
Outerchr5:151433749..151448629hg17UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3814881
hg1914881
hg1814881
hg1714881
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5071
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)nssv507
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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