A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv517



Internal ID15198028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177581433..177592821hg38UCSC Ensembl
Outerchr5:177008434..177019822hg19UCSC Ensembl
Outerchr5:176941040..176952428hg18UCSC Ensembl
Outerchr5:176941040..176952428hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg389231
hg199231
hg189231
hg179231
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5149
Supporting Variants
SamplesNA19240
Known GenesTMED9
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)nssv517
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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