A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4866n100



Internal ID22790953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130031351..130188415hg38UCSC Ensembl
chr3:129750194..129907258hg19UCSC Ensembl
chr3:131232884..131389948hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38157065
hg19157065
hg18157065
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1014485, nsv1004624, nsv1005374, nsv999589, nsv1010223, nsv1007055, nsv1000981, nsv1010790, nsv998055, nsv1014782, nsv1001465, nsv1014858, nsv1007845, nsv1010558, nsv1014359
Samples
Known GenesALG1L2, FAM86HP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4866n100
Frequency
Sample Size11257
Observed Gain28
Observed Loss0
Observed Complex0
Frequencyn/a


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