A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv628n54



Internal ID22768523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169262975..169271737hg38UCSC Ensembl
chr1:169232213..169240975hg19UCSC Ensembl
chr1:167498837..167507599hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg388763
hg198763
hg188763
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548169, nsv548170, nsv548168, nsv548173, nsv548177, nsv548167, nsv548175, nsv548171, nsv548166, nsv548178, nsv548174, nsv548172
Samples
Known GenesNME7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv628n54
Frequency
Sample Size17421
Observed Gain38
Observed Loss0
Observed Complex0
Frequencyn/a


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