A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976362



Internal ID18264882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:87953061..87955012hg38UCSC Ensembl
Innerchr14:88419405..88421356hg19UCSC Ensembl
Innerchr14:87489158..87491109hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg381952
hg191952
hg181952
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1995854, nssv1995853, nssv1995858, nssv1995859, nssv1995856, nssv1995860, nssv1995852, nssv1995857, nssv1995855, nssv1995851
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesGALC
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976362
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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