A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18054674



Internal ID20621714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:18250601..18276200hg38UCSC Ensembl
chr1:18577095..18602694hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3825600
hg1925600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6321848
Supporting Variants
Samples
Known GenesIGSF21
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18054674
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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