A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1286



Internal ID15545849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:56409685..56420767hg38UCSC Ensembl
Outerchr14:56876403..56887485hg19UCSC Ensembl
Outerchr14:55946156..55957238hg18UCSC Ensembl
Outerchr14:55946156..55957238hg17UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg387934
hg197934
hg187934
hg177934
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4114
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)nsv1286
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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