A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv152n100



Internal ID19010520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39693156..39800418hg38UCSC Ensembl
chr1:40158828..40266090hg19UCSC Ensembl
chr1:39931415..40038677hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38107263
hg19107263
hg18107263
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998684, nsv1008565
Samples
Known GenesBMP8B, OXCT2, PPIE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv152n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer