A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv584n54



Internal ID22768479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154501655..154502561hg38UCSC Ensembl
chr1:154474131..154475037hg19UCSC Ensembl
chr1:152740755..152741661hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38907
hg19907
hg18907
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547955, nsv547952, nsv547944, nsv547949, nsv547956, nsv547947, nsv547948, nsv547943, nsv547945, nsv547951, nsv547946
Samples
Known GenesSHE, TDRD10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv584n54
Frequency
Sample Size17421
Observed Gain34
Observed Loss0
Observed Complex0
Frequencyn/a


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