A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv506n172



Internal ID22814880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:13008501..13028500hg38UCSC Ensembl
chr3:13050001..13070000hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg3820000
hg1920000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4433887, nsv4433888
SamplesSMI034, SMI041
Known GenesIQSEC1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv506n172
Frequency
Sample Size15
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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