A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5508



Internal ID15543957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:67753983..67763980hg38UCSC Ensembl
Outerchr14:68220700..68230697hg19UCSC Ensembl
Outerchr14:67290453..67300450hg18UCSC Ensembl
Outerchr14:67290453..67300450hg17UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg388466
hg198466
hg188466
hg178466
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1323
Supporting Variants
SamplesNA19129
Known GenesZFYVE26
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)nssv5508
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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