A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1221



Internal ID15544508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105231372..105241172hg38UCSC Ensembl
Outerchr14:105697709..105707509hg19UCSC Ensembl
Outerchr14:104768754..104778554hg18UCSC Ensembl
Outerchr14:104768754..104778554hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3812130
hg1912130
hg1812130
hg1712130
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1439
Supporting Variants
SamplesNA19240
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)nssv1221
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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