A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6228n54



Internal ID20139652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3937165..3938219hg38UCSC Ensembl
chr19:3937163..3938217hg19UCSC Ensembl
chr19:3888163..3889217hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381055
hg191055
hg181055
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv578424, nsv578426, nsv578425, nsv578428
Samples
Known GenesNMRK2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6228n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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