A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17355227



Internal ID22580896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13140392..13140462hg38UCSC Ensembl
chr12:13293326..13293396hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5918447
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17355227
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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