A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6340965



Internal ID20998518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:37975701..37980600hg38UCSC Ensembl
chr2:38202844..38207743hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg384900
hg194900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206920
Samples
Known GenesRMDN2, RMDN2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6340965
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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