A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv819n54



Internal ID20134243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216041119..216051906hg38UCSC Ensembl
chr1:216214461..216225248hg19UCSC Ensembl
chr1:214281084..214291871hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3810788
hg1910788
hg1810788
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549197, nsv549198
Samples
Known GenesUSH2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv819n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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