A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3553n100



Internal ID20155169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42743361..42828783hg38UCSC Ensembl
chr19:43247513..43332935hg19UCSC Ensembl
chr19:47939353..48024775hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3885423
hg1985423
hg1885423
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1066069, nsv1066504, nsv1062248
Samples
Known GenesLOC100289650, PSG8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3553n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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