A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4118



Internal ID15538845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:68465516..68499587hg38UCSC Ensembl
Outerchr14:68932233..68966304hg19UCSC Ensembl
Outerchr14:68001986..68036057hg18UCSC Ensembl
Outerchr14:68001986..68036057hg17UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg385676
hg195676
hg185676
hg175676
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1327
Supporting Variants
SamplesNA12878
Known GenesRAD51B
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)nssv4118
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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