A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv81n54



Internal ID22767976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6954384..6964162hg38UCSC Ensembl
chr1:7014444..7024222hg19UCSC Ensembl
chr1:6937031..6946809hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg389779
hg199779
hg189779
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545270, nsv545272, nsv545271
Samples
Known GenesCAMTA1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv81n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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