A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv331n100



Internal ID19010699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145642988..145827134hg38UCSC Ensembl
chr1:145607979..145792052hg19UCSC Ensembl
chr1:144319336..144503409hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38184147
hg19184074
hg18184074
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1000034, nsv1012276, nsv1011379
Samples
Known GenesCD160, GPR89A, LOC100288142, NBPF10, PDZK1, POLR3C, RNF115
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv331n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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