A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5987873



Internal ID21897216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208407575..208407666hg38UCSC Ensembl
chr2:209272300..209272391hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17533717
Samples
Known GenesPTH2R
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5987873
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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