A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1381



Internal ID15545944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:83897285..83901382hg38UCSC Ensembl
Outerchr14:84363629..84367726hg19UCSC Ensembl
Outerchr14:83433382..83437479hg18UCSC Ensembl
Outerchr14:83433382..83437479hg17UCSC Ensembl
Cytoband14q31.2
Allele length
AssemblyAllele length
hg387422
hg197422
hg187422
hg177422
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4129
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)nsv1381
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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