A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983833



Internal ID18619025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:60780091..60783027hg38UCSC Ensembl
Innerchr14:61246809..61249745hg19UCSC Ensembl
Innerchr14:60316562..60319498hg18UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg382937
hg192937
hg182937
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1988856, nssv1988861, nssv1988859, nssv1988858, nssv1988862, nssv1988853, nssv1988860, nssv1988854, nssv1988857, nssv1988855
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMNAT1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983833
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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