A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18054597



Internal ID20621637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180779501..180786200hg38UCSC Ensembl
chr1:180748637..180755336hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg386700
hg196700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6327567
Supporting Variants
Samples
Known GenesXPR1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18054597
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.01047


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