A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv311n54



Internal ID22768206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:72116283..72201513hg38UCSC Ensembl
chr1:72581966..72667196hg19UCSC Ensembl
chr1:72354554..72439784hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3885231
hg1985231
hg1885231
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546484, nsv546483
Samples
Known GenesNEGR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv311n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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