A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2n82



Internal ID20148365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:585989..588370hg38UCSC Ensembl
chr1:521369..523750hg19UCSC Ensembl
chr1:510953..513613hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg382382
hg192382
hg182661
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv945540, nsv945719
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)dgv2n82
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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