A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18057284



Internal ID20624324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216190255..216201599hg38UCSC Ensembl
chr1:216363597..216374941hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3811345
hg1911345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6326951
Supporting Variants
Samples
Known GenesUSH2A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18057284
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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