A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6343763



Internal ID21001316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190649201..190653600hg38UCSC Ensembl
chr2:191513927..191518326hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg384400
hg194400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205429
Samples
Known GenesNAB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6343763
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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