A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3555n100



Internal ID22789642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42751053..42882021hg38UCSC Ensembl
chr19:43255205..43386173hg19UCSC Ensembl
chr19:47947045..48078013hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38130969
hg19130969
hg18130969
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1056355, nsv1057134, nsv1064137, nsv1064005, nsv1057085, nsv1059689, nsv1062666, nsv1064689, nsv1059480, nsv1059388, nsv1067148, nsv1062621, nsv1060812, nsv1065962, nsv1059967, nsv1058074, nsv1059724, nsv1064974, nsv1055495
Samples
Known GenesLOC100289650, PSG1, 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)dgv3555n100
Frequency
Sample Size11257
Observed Gain168
Observed Loss0
Observed Complex0
Frequencyn/a


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