A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18052982



Internal ID20620022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150644269..150652055hg38UCSC Ensembl
chr1:150616745..150624531hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg387787
hg197787
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6323236
Supporting Variants
Samples
Known GenesGOLPH3L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18052982
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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