A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1373



Internal ID15199250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:80450631..80484887hg38UCSC Ensembl
Outerchr14:80916974..80951230hg19UCSC Ensembl
Outerchr14:79986727..80020983hg18UCSC Ensembl
Outerchr14:79986727..80020983hg17UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg386732
hg196732
hg186732
hg176732
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1212
SamplesNA19240
Known GenesDIO2-AS1
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)nsv1373
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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