A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18232899



Internal ID20799939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:5082653..5401924hg38UCSC Ensembl
chr6:5082887..5402157hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38319272
hg19319271
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6401280
Supporting Variants
Samples
Known GenesFARS2, LYRM4, MIR3691, PPP1R3G
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18232899
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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