A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6349011



Internal ID21006564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:37980266..38032957hg38UCSC Ensembl
chr2:38207409..38260100hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3852692
hg1952692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18089119
Samples
Known GenesRMDN2, RMDN2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6349011
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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