A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001258



Internal ID20568298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50405107..50406918hg38UCSC Ensembl
chr12:50798890..50800701hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381812
hg191812
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6469363
Supporting Variants
Samples
Known GenesLARP4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001258
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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