A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1331



Internal ID15199208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:69058213..69090541hg38UCSC Ensembl
Outerchr14:69524930..69557258hg19UCSC Ensembl
Outerchr14:68594683..68627011hg18UCSC Ensembl
Outerchr14:68594683..68627011hg17UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg387174
hg197174
hg187174
hg177174
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10019
SamplesNA18956
Known GenesDCAF5
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)nsv1331
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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