A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578425



Internal ID16019148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:3937221..3938033hg38UCSC Ensembl
Innerchr19:3937219..3938031hg19UCSC Ensembl
Innerchr19:3888219..3889031hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38813
hg19813
hg18813
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6228n54
Supporting Variantsnssv892834
Samples
Known GenesNMRK2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578425
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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