A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv296n54



Internal ID20133720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:61082059..61083822hg38UCSC Ensembl
chr1:61547731..61549494hg19UCSC Ensembl
chr1:61320319..61322082hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381764
hg191764
hg181764
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546369, nsv546370
Samples
Known GenesNFIA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv296n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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