A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983818



Internal ID18619010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:39384692..39386501hg38UCSC Ensembl
Innerchr14:39853896..39855705hg19UCSC Ensembl
Innerchr14:38923647..38925456hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg381810
hg191810
hg181810
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1985642, nssv1985644, nssv1985649, nssv1985647, nssv1985651, nssv1985645, nssv1985643, nssv1985648, nssv1985650, nssv1985646
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983818
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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