A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv392n100



Internal ID19010760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143624419..143845011hg38UCSC Ensembl
chr1:149119080..149339573hg19UCSC Ensembl
chr1:147385704..147606197hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38220593
hg19220494
hg18220494
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011593, nsv1003289, nsv1005437
Samples
Known GenesLOC388692, NBPF23
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv392n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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