A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6343083



Internal ID21000636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179144501..179145100hg38UCSC Ensembl
chr2:180009228..180009827hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18082782
Samples
Known GenesSESTD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6343083
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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