A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18088835



Internal ID20655875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68482901..68487800hg38UCSC Ensembl
chr2:68710033..68714932hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg384900
hg194900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6350073
Supporting Variants
Samples
Known GenesAPLF
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18088835
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00069


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