A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8203



Internal ID15188975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177361886..177379524hg38UCSC Ensembl
Outerchr5:176788887..176806525hg19UCSC Ensembl
Outerchr5:176721493..176739131hg18UCSC Ensembl
Outerchr5:176721493..176739131hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3817639
hg1917639
hg1817639
hg1717639
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5146
Supporting Variants
SamplesNA12156
Known GenesRGS14
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)nssv8203
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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