A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv249n54



Internal ID22768144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40877936..40921331hg38UCSC Ensembl
chr1:41343608..41387003hg19UCSC Ensembl
chr1:41116195..41159590hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3843396
hg1943396
hg1843396
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546099, nsv546100, nsv546097, nsv546093, nsv546098
SamplesHGDP00513, HGDP00084, 1780862551_A, HGDP00082, HGDP00628
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv249n54
Frequency
Sample Size17421
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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