A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1222



Internal ID15545785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:24445622..24468432hg38UCSC Ensembl
Outerchr14:24914828..24937638hg19UCSC Ensembl
Outerchr14:23984668..24007478hg18UCSC Ensembl
Outerchr14:23984668..24007478hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg389049
hg199049
hg189049
hg179049
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5494
SamplesNA19129
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)nsv1222
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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