A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv19n82



Internal ID22782853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143294061..143300536hg38UCSC Ensembl
chr1:149009774..149016022hg19UCSC Ensembl
chr1:147276398..147282646hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg386476
hg196249
hg186249
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv947032, nsv947031
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC101929780
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)dgv19n82
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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