A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17454372



Internal ID22512248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54942883..54948223hg38UCSC Ensembl
chr12:55336667..55342007hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg385341
hg195341
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5850776
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17454372
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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