A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202700



Internal ID20769740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225830730..225858590hg38UCSC Ensembl
chr1:226018431..226046290hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3827861
hg1927860
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6325680
Supporting Variants
Samples
Known GenesEPHX1, TMEM63A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202700
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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