A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4192n223



Internal ID22807160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174404701..174410900hg38UCSC Ensembl
chr2:175269429..175275628hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg386200
hg196200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6342527, nsv6352860
Samples
Known GenesSCRN3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv4192n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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