A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17464560



Internal ID22522447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121222096..121223133hg38UCSC Ensembl
chr12:121659899..121660936hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381038
hg191038
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5849133
Supporting Variants
Samples
Known GenesP2RX4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17464560
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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