A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202311



Internal ID20769351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197288020..197572285hg38UCSC Ensembl
chr1:197257150..197541415hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38284266
hg19284266
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6326641
Supporting Variants
Samples
Known GenesCRB1, DENND1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202311
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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