A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6345201



Internal ID21002754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199350842..199358754hg38UCSC Ensembl
chr2:200215565..200223477hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg387913
hg197913
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18083928
Samples
Known GenesSATB2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6345201
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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