A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18251161



Internal ID20818201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47356268..47357902hg38UCSC Ensembl
chr1:47821940..47823574hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg381635
hg191635
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6546294
Supporting Variants
Samples
Known GenesCMPK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18251161
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00048


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