A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578471



Internal ID16365880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6921857..7000390hg38UCSC Ensembl
Innerchr19:6921868..7000401hg19UCSC Ensembl
Innerchr19:6872868..6951401hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3878534
hg1978534
hg1878534
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6236n54
Supporting Variantsnssv1150031
Samples1782681287_A
Known GenesEMR1, EMR4P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578471
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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