A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18059544



Internal ID20626584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240590708..240591059hg38UCSC Ensembl
chr1:240754008..240754359hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38352
hg19352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6325431
Supporting Variants
Samples
Known GenesGREM2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18059544
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00012


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