A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18055660



Internal ID20622700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196652201..196653700hg38UCSC Ensembl
chr1:196621331..196622830hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6317795
Supporting Variants
Samples
Known GenesCFH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18055660
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00176


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