A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202453



Internal ID20769493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:36957398..36958408hg38UCSC Ensembl
chr1:37422999..37424009hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg381011
hg191011
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6326987
Supporting Variants
Samples
Known GenesGRIK3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202453
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00025


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