A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5521



Internal ID15543940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:93368245..93401797hg38UCSC Ensembl
Outerchr14:93834591..93868143hg19UCSC Ensembl
Outerchr14:92904344..92937896hg18UCSC Ensembl
Outerchr14:92904344..92937896hg17UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg385730
hg195730
hg185730
hg175730
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1403
Supporting Variants
SamplesNA19129
Known GenesUNC79
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)nssv5521
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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