A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2920



Internal ID15194949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:67481108..67514601hg38UCSC Ensembl
Outerchr14:67947825..67981318hg19UCSC Ensembl
Outerchr14:67017578..67051071hg18UCSC Ensembl
Outerchr14:67017578..67051071hg17UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg386536
hg196536
hg186536
hg176536
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1322
Supporting Variants
SamplesNA18555
Known GenesTMEM229B
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)nssv2920
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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