A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5512



Internal ID15543951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:69942651..69976459hg38UCSC Ensembl
Outerchr14:70409368..70443176hg19UCSC Ensembl
Outerchr14:69479121..69512929hg18UCSC Ensembl
Outerchr14:69479121..69512929hg17UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg385460
hg195460
hg185460
hg175460
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1337
Supporting Variants
SamplesNA19129
Known GenesSMOC1
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)nssv5512
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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