A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16918971



Internal ID13415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143252640..143253005hg38UCSC Ensembl
chr2:144010209..144010574hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg38366
hg19366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5437855
Supporting Variants
Samples
Known GenesARHGAP15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16918971
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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