A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6343185



Internal ID21000738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47583128..47591518hg38UCSC Ensembl
chr2:47810267..47818657hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg388391
hg198391
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18089411
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6343185
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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