A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977504



Internal ID18612710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:99965373..99966781hg38UCSC Ensembl
Innerchr14:100431710..100433118hg19UCSC Ensembl
Innerchr14:99501463..99502871hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381409
hg191409
hg181409
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1997252, nssv1997257, nssv1997254, nssv1997249, nssv1997251, nssv1997250, nssv1997255, nssv1997256, nssv1997253, nssv1997248
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)nsv977504
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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