A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3620n100



Internal ID20155236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49087495..49147785hg38UCSC Ensembl
chr19:49590752..49651042hg19UCSC Ensembl
chr19:54282564..54342854hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3860291
hg1960291
hg1860291
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1063846, nsv1058687, nsv1061652
Samples
Known GenesC19orf73, LIN7B, PPFIA3, SNRNP70
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3620n100
Frequency
Sample Size29084
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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