A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18086031



Internal ID20653071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48436044..48436714hg38UCSC Ensembl
chr2:48663183..48663853hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38671
hg19671
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6335595
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18086031
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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