A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3864n223



Internal ID22806832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:50637780..50787202hg38UCSC Ensembl
chr2:50864918..51014340hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38149423
hg19149423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6351261, nsv6342819
Samples
Known GenesNRXN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv3864n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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