A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1421



Internal ID15545984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:99313815..99348535hg38UCSC Ensembl
Outerchr14:99780152..99814872hg19UCSC Ensembl
Outerchr14:98849905..98884625hg18UCSC Ensembl
Outerchr14:98849905..98884625hg17UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg386278
hg196278
hg186278
hg176278
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1219
SamplesNA19240
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)nsv1421
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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