A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983840



Internal ID18272346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:70229959..70248209hg38UCSC Ensembl
Innerchr14:70696676..70714926hg19UCSC Ensembl
Innerchr14:69766429..69784679hg18UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg3818251
hg1918251
hg1818251
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1991481, nssv1991474, nssv1991483, nssv1991479, nssv1991477, nssv1991475, nssv1991482, nssv1991480, nssv1991478, nssv1991476
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesADAM21P1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983840
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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