A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6348640



Internal ID21006193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:37985297..37985734hg38UCSC Ensembl
chr2:38212440..38212877hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38438
hg19438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18089120
Samples
Known GenesRMDN2, RMDN2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6348640
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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