A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1379



Internal ID15545942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:82774465..82809413hg38UCSC Ensembl
Outerchr14:83240809..83275757hg19UCSC Ensembl
Outerchr14:82310562..82345510hg18UCSC Ensembl
Outerchr14:82310562..82345510hg17UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg386037
hg196037
hg186037
hg176037
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1214
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)nsv1379
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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