A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6346529



Internal ID21004082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218365144..218388142hg38UCSC Ensembl
chr2:219229867..219252865hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3822999
hg1922999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205631
Samples
Known GenesC2orf62, SLC11A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6346529
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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