A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974352



Internal ID18609563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:72960738..72961785hg38UCSC Ensembl
Innerchr14:73427446..73428493hg19UCSC Ensembl
Innerchr14:72497199..72498246hg18UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg381048
hg191048
hg181048
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1992390, nssv1992392, nssv1992395, nssv1992394, nssv1992397, nssv1992399, nssv1992393, nssv1992396, nssv1992398, nssv1992391
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974352
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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