A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3554n100



Internal ID20155170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42751053..42850288hg38UCSC Ensembl
chr19:43255205..43354440hg19UCSC Ensembl
chr19:47947045..48046280hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3899236
hg1999236
hg1899236
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1057801, nsv1065780, nsv1062770, nsv1057347, nsv1065309, nsv1066166, nsv1055222, nsv1055727, nsv1066236, nsv1063809, nsv1063366, nsv1067204
Samples
Known GenesLOC100289650, PSG10P, PSG8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3554n100
Frequency
Sample Size29084
Observed Gain31
Observed Loss0
Observed Complex0
Frequencyn/a


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