A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv309n54



Internal ID22768204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:71611866..71773008hg38UCSC Ensembl
chr1:72077549..72238691hg19UCSC Ensembl
chr1:71850137..72011279hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38161143
hg19161143
hg18161143
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546476, nsv546477
SamplesNINDS_130
Known GenesNEGR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv309n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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