A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578420



Internal ID16019143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:3037789..3099984hg38UCSC Ensembl
Innerchr19:3037787..3099982hg19UCSC Ensembl
Innerchr19:2988787..3050982hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3862196
hg1962196
hg1862196
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv892826
Samples
Known GenesAES, GNA11, TLE2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578420
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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