A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4110



Internal ID15192151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:49759766..49763182hg38UCSC Ensembl
Outerchr14:50226484..50229900hg19UCSC Ensembl
Outerchr14:49296234..49299650hg18UCSC Ensembl
Outerchr14:49296234..49299650hg17UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg386755
hg196755
hg186755
hg176755
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1269
Supporting Variants
SamplesNA12878
Known Genes
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)nssv4110
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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