A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1281



Internal ID15545844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:53855730..53889313hg38UCSC Ensembl
Outerchr14:54322448..54356031hg19UCSC Ensembl
Outerchr14:53392198..53425781hg18UCSC Ensembl
Outerchr14:53392198..53425781hg17UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg385854
hg195854
hg185854
hg175854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9197
SamplesNA12156
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)nsv1281
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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