A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18054331



Internal ID20621372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186972447..186972984hg38UCSC Ensembl
chr1:186941579..186942116hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38538
hg19538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6321883
Supporting Variants
Samples
Known GenesPLA2G4A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18054331
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0005


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