A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6230n54



Internal ID20139654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3937325..3938509hg38UCSC Ensembl
chr19:3937323..3938507hg19UCSC Ensembl
chr19:3888323..3889507hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381185
hg191185
hg181185
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv578429, nsv578434, nsv578430
Samples
Known GenesNMRK2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6230n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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