A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8n82



Internal ID22782842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149118440..149129662hg38UCSC Ensembl
chr1:144567624..144578785hg19UCSC Ensembl
chr1:143278981..143290142hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3811223
hg1911162
hg1811162
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv946739, nsv946240
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC100288142
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)dgv8n82
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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