A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv312n54



Internal ID22768207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:72169229..72263459hg38UCSC Ensembl
chr1:72634912..72729142hg19UCSC Ensembl
chr1:72407500..72501730hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3894231
hg1994231
hg1894231
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546485, nsv546486
SamplesHGDP01337
Known GenesNEGR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv312n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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