A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001471



Internal ID20568511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53743263..53746016hg38UCSC Ensembl
chr12:54137047..54139800hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg382754
hg192754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6460204
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001471
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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