A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17402388



Internal ID22460258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:106240685..107908171hg38UCSC Ensembl
chr2:106857141..108524627hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg381667487
hg191667487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5868662
Supporting Variants
Samples
Known GenesPLGLA, RGPD3, RGPD4, RGPD4-AS1, ST6GAL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17402388
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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