A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6374512



Internal ID21032065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48471572..48482035hg38UCSC Ensembl
chr3:48512979..48523454hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3810464
hg1910476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18101436
Samples
Known GenesSHISA5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6374512
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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