A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6347480



Internal ID21005033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55390126..55399263hg38UCSC Ensembl
chr2:55617262..55626399hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg389138
hg199138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18087588
Samples
Known GenesCCDC88A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6347480
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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