A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18002053



Internal ID20569093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:58766120..58766604hg38UCSC Ensembl
chr12:59159902..59160386hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38485
hg19485
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6471161
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18002053
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00047


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