A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17367814



Internal ID22593483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54767352..54770241hg38UCSC Ensembl
chr12:55161136..55164025hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg382890
hg192890
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5943289
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17367814
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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