A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200448



Internal ID20767488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152351298..152352537hg38UCSC Ensembl
chr1:152323774..152325013hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6326815
Supporting Variants
Samples
Known GenesFLG2, FLG-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200448
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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