A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18052391



Internal ID20619431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1530547..1530850hg38UCSC Ensembl
chr1:1465927..1466230hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6329066
Supporting Variants
Samples
Known GenesATAD3A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18052391
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.17822


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