A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv816n54



Internal ID20134240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215687122..215690236hg38UCSC Ensembl
chr1:215860464..215863578hg19UCSC Ensembl
chr1:213927087..213930201hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg383115
hg193115
hg183115
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549185, nsv549184
Samples
Known GenesUSH2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv816n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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