A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18061518



Internal ID20628558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53597601..53600710hg38UCSC Ensembl
chr1:54063274..54066383hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383110
hg193110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6329092
Supporting Variants
Samples
Known GenesGLIS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18061518
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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