A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983825



Internal ID18272331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:52727394..52728184hg38UCSC Ensembl
Innerchr14:53194112..53194902hg19UCSC Ensembl
Innerchr14:52263862..52264652hg18UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38791
hg19791
hg18791
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1987301, nssv1987298, nssv1987300, nssv1987307, nssv1987302, nssv1987299, nssv1987306, nssv1987305, nssv1987304, nssv1987303
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPSMC6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983825
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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