A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946080



Internal ID18246244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:93190813..93191843hg38UCSC Ensembl
Innerchr1:93656370..93657400hg19UCSC Ensembl
Innerchr1:93428958..93429988hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381031
hg191031
hg181031
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1777922, nssv1777924, nssv1777925, nssv1777923, nssv1777927, nssv1777929, nssv1777928, nssv1777926, nssv1777930, nssv1777921
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCCDC18
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946080
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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