A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976349



Internal ID18264869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:67704611..67714891hg38UCSC Ensembl
Innerchr14:68171328..68181608hg19UCSC Ensembl
Innerchr14:67241081..67251361hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg3810281
hg1910281
hg1810281
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1990782, nssv1990777, nssv1990786, nssv1990783, nssv1990778, nssv1990785, nssv1990781, nssv1990779, nssv1990780, nssv1990784
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRDH12
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976349
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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