A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv14n82



Internal ID20148377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:148570519..148572297hg38UCSC Ensembl
chr1:148305680..148307474hg19UCSC Ensembl
chr1:146672304..146674098hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381779
hg191795
hg181795
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv946941, nsv946940
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesLOC101929780, NBPF10, NBPF14, NBPF8, NBPF9
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)dgv14n82
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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