A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv524n54



Internal ID22768419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119564979..119620164hg38UCSC Ensembl
chr1:120107602..120162787hg19UCSC Ensembl
chr1:119909125..119964310hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3855186
hg1955186
hg1855186
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547619, nsv547618
SamplesHGDP00454, HGDP00477
Known GenesHSD3BP4, LINC00622, ZNF697
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv524n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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