A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4133



Internal ID15538860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105223240..105244030hg38UCSC Ensembl
Outerchr14:105689577..105710367hg19UCSC Ensembl
Outerchr14:104760622..104781412hg18UCSC Ensembl
Outerchr14:104760622..104781412hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg386516
hg196516
hg186516
hg176516
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1439
Supporting Variants
SamplesNA12878
Known GenesBRF1
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)nssv4133
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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