A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8119



Internal ID15535745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:82703700..82748805hg38UCSC Ensembl
Outerchr5:81999519..82044624hg19UCSC Ensembl
Outerchr5:82035275..82080380hg18UCSC Ensembl
Outerchr5:82035275..82080380hg17UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg3845106
hg1945106
hg1845106
hg1745106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4902
Supporting Variants
SamplesNA12156
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)nssv8119
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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