A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6344047



Internal ID21001600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:49748450..49890828hg38UCSC Ensembl
chr2:49975588..50117966hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38142379
hg19142379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18086470
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6344047
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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