A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6346708



Internal ID21004261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:139181031..139186478hg38UCSC Ensembl
chr2:139938601..139944048hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg385448
hg195448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18077366
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6346708
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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