A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18145039



Internal ID20712079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:5130201..5433200hg38UCSC Ensembl
chr6:5130435..5433433hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38303000
hg19302999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6397456
Supporting Variants
Samples
Known GenesFARS2, LYRM4, MIR3691
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18145039
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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