A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18144075



Internal ID20711115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44306618..44310759hg38UCSC Ensembl
chr6:44274355..44278496hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg384142
hg194142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6414602
Supporting Variants
Samples
Known GenesAARS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18144075
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00018


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