A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18164159



Internal ID20731200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:119234201..119237500hg38UCSC Ensembl
chr8:120246441..120249740hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg383300
hg193300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6431713
Supporting Variants
Samples
Known GenesMAL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18164159
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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