A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv132n54



Internal ID22768027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12849386..12861255hg38UCSC Ensembl
chr1:12909239..12921110hg19UCSC Ensembl
chr1:12831826..12843697hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3811870
hg1911872
hg1811872
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545522, nsv545525, nsv545518, nsv545519
Samples
Known GenesPRAMEF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv132n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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