A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18249515



Internal ID20816555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183956001..183957049hg38UCSC Ensembl
chr1:183925135..183926183hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381049
hg191049
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6537947
Supporting Variants
Samples
Known GenesCOLGALT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18249515
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00015


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