A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6229n54



Internal ID20139653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3937221..3938784hg38UCSC Ensembl
chr19:3937219..3938782hg19UCSC Ensembl
chr19:3888219..3889782hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381564
hg191564
hg181564
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv578431, nsv578432, nsv578427, nsv578433
Samples
Known GenesNMRK2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6229n54
Frequency
Sample Size17421
Observed Gain32
Observed Loss23
Observed Complex0
Frequencyn/a


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