A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv332n100



Internal ID19010700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145642988..145809393hg38UCSC Ensembl
chr1:145625694..145792052hg19UCSC Ensembl
chr1:144337051..144503409hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38166406
hg19166359
hg18166359
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1004444, nsv1013024
Samples
Known GenesCD160, GPR89A, LOC100288142, NBPF10, PDZK1, RNF115
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv332n100
Frequency
Sample Size29084
Observed Gain19
Observed Loss6
Observed Complex0
Frequencyn/a


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