A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17468371



Internal ID22526260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95650644..95654088hg38UCSC Ensembl
chr12:96044420..96047864hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg383445
hg193445
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5852688
Supporting Variants
Samples
Known GenesPGAM1P5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17468371
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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