A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3552n100



Internal ID20155168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42733612..42911560hg38UCSC Ensembl
chr19:43237764..43415712hg19UCSC Ensembl
chr19:47929604..48107552hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38177949
hg19177949
hg18177949
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1057183, nsv1061598
Samples
Known GenesLOC100289650, PSG1, PSG10P, PSG3, PSG6, PSG8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3552n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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