A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578428



Internal ID16019151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:3937325..3938219hg38UCSC Ensembl
Innerchr19:3937323..3938217hg19UCSC Ensembl
Innerchr19:3888323..3889217hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38895
hg19895
hg18895
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6228n54
Supporting Variantsnssv892843, nssv892844
Samples
Known GenesNMRK2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578428
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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