A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17362879



Internal ID22588548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30760981..30762202hg38UCSC Ensembl
chr12:30913915..30915136hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381222
hg191222
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5918434
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17362879
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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