A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1n82



Internal ID20148364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10001..22118hg38UCSC Ensembl
chr1:10001..22118hg19UCSC Ensembl
chr1:1..11981hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3812118
hg1912118
hg1811981
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv945698, nsv945697
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDDX11L1, LOC100288778, MIR6859-1, MIR6859-2, WASH7P
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)dgv1n82
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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